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Increased bone mineral density

MedGen UID:
451275
Concept ID:
CN116733
Finding
Synonyms: Increased bone density; Osteosclerosis; Osteosclerosis of bones
 
HPO: HP:0011001

Definition

An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGIncreased bone mineral density

Conditions with this feature

Supravalvar aortic stenosis
MedGen UID:
2001
Concept ID:
C0003499
Disease or Syndrome
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure. The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.
Cleidocranial dysostosis
MedGen UID:
3486
Concept ID:
C0008928
Disease or Syndrome
Cleidocranial dysplasia (referred to as CCD in this review) is a skeletal dysplasia characterized by delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and multiple dental abnormalities. Manifestations may vary among individuals in the same family. The most prominent clinical findings are abnormally large, wide-open fontanels at birth that may remain open throughout life; mid-face retrusion; abnormal dentition, including delayed eruption of secondary dentition, failure to shed the primary teeth, supernumerary teeth with dental crowding, and malocclusion; clavicular hypoplasia resulting in narrow, sloping shoulders that can be apposed at the midline; and hand abnormalities such as brachydactyly, tapering fingers, and short, broad thumbs. Individuals with CCD are shorter than their unaffected sibs and are more likely to have other skeletal/orthopedic problems such as pes planus, genu valgum, and scoliosis. Other medical problems include recurrent sinus infections and other upper-airway complications, recurrent ear infections, high incidence of cesarean section, and mild degree of motor delay in children under age five years.
Gaucher disease
MedGen UID:
42164
Concept ID:
C0017205
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.
Hereditary insensitivity to pain with anhidrosis
MedGen UID:
6915
Concept ID:
C0020074
Disease or Syndrome
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is characterized by insensitivity to pain, anhidrosis (the inability to sweat), and intellectual disability. The ability to sense all pain (including visceral pain) is absent, resulting in repeated injuries including: oral self-mutilation (biting of tongue, lips, and buccal mucosa); biting of fingertips; bruising, scarring, and infection of the skin; multiple bone fractures (many of which fail to heal properly); and recurrent joint dislocations resulting in joint deformity. Sense of touch, vibration, and position are normal. Anhidrosis predisposes to recurrent febrile episodes that are often the initial manifestation of CIPA. Hypothermia in cold environments also occurs. Intellectual disability of varying degree is observed in most affected individuals; hyperactivity and emotional lability are common.
Melorheostosis
MedGen UID:
7525
Concept ID:
C0025239
Disease or Syndrome
Melorheostosis (MEL) is characterized by 'flowing' hyperostosis of the cortex of tubular bones. The lesions are usually asymmetric and involve only 1 limb or correspond to a particular sclerotome. They may be accompanied by abnormalities of adjacent soft tissue, including joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangiomas (review by Hellemans et al., 2004). The designation combines root words meaning 'limb,' 'flow,' and 'bone.' Melorheostosis may sometimes be a feature of Buschke-Ollendorff syndrome (BOS; 166700), a benign disorder which is caused by mutation in the LEMD3 gene (607844). Although germline or somatic LEMD3 mutations had been postulated to cause isolated melorheostosis (Butkus et al., 1997; Debeer et al., 2003; Happle, 2004; Hellemans et al., 2004), several studies have not been able to prove this (Hellemans et al., 2004; Mumm et al., 2007; Zhang et al., 2009).
Osteopetrosis
MedGen UID:
18223
Concept ID:
C0029454
Congenital Abnormality
Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).
Schwartz Jampel syndrome type 1
MedGen UID:
19892
Concept ID:
C0036391
Congenital Abnormality
A syndrome of short stature; generalized myotonia with contractures of major joints, microstomia, and muscle rigidity; ocular anomalies, mainly blepharophimosis; and characteristic facies marked by pinched or frozen smile puckered lips. Some degree of mental retardation occurs in about 25% of patients. The affected children usually appear normal at birth and the symptoms become recognizable at 1 to 3 years of age. Malignant hyperthermia is a potentially lethal hazard during anesthesia.
Werner syndrome
MedGen UID:
12147
Concept ID:
C0043119
Disease or Syndrome
Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.
Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to failure to thrive in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Diastrophic dysplasia
MedGen UID:
113103
Concept ID:
C0220726
Congenital Abnormality
Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized skull, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence.
Pyknodysostosis
MedGen UID:
116061
Concept ID:
C0238402
Congenital Abnormality
Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.
Oto-palato-digital syndrome, type I
MedGen UID:
78542
Concept ID:
C0265251
Disease or Syndrome
The otopalatodigital (OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type I (OPD1). Otopalatodigital syndrome type II (OPD2). Frontometaphyseal dysplasia (FMD). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD, females are less severely affected than related affected males. Males do not experience progression of skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. Prenatal lethality is most common in males with MNS. TODPD is a female limited condition, characterized by terminal skeletal dysplasia, pigmentary defects of the skin, and recurrent digital fibromata.
Kenny syndrome
MedGen UID:
75560
Concept ID:
C0265291
Disease or Syndrome
The major features of Kenny-Caffey syndrome are proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of anterior fontanel, eye abnormalities, and transient hypocalcemia. Intelligence is normal (Kenny and Linarelli, 1966; Caffey, 1967). Inheritance in most cases is autosomal dominant (Franceschini et al., 1992). See KCS1 (244460) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.
Metaphyseal chondrodysplasia, Jansen type
MedGen UID:
120529
Concept ID:
C0265295
Congenital Abnormality
The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).
Tricho-dento-osseous syndrome
MedGen UID:
78555
Concept ID:
C0265333
Congenital Abnormality
Trichodentoosseous syndrome is an autosomal dominant disorder with complete penetrance characterized by abnormalities involving hair, teeth, and bone (summary by Nguyen et al., 2013).
Dermatofibrosis lenticularis disseminata
MedGen UID:
120545
Concept ID:
C0265514
Disease or Syndrome
Buschke-Ollendorff syndrome is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009).
Primary hyperoxaluria, type I
MedGen UID:
75658
Concept ID:
C0268164
Disease or Syndrome
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium salts that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis/urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD) with a history of renal stones or calcinosis. Age at onset of symptoms typically ranges from one to 25 years. Approximately 19% of affected individuals present before age four to six months with severe disease, often associated with failure to thrive, nephrocalcinosis, anemia, and metabolic acidosis. Approximately 54% of affected individuals present in late childhood or early adolescence, usually with symptomatic nephrolithiasis. The remainder of affected individuals present in adulthood with recurrent renal stones. The natural history of untreated PH1 is one of inexorable decline in renal function as a result of progressive nephrolithiasis/nephrocalcinosis, with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD.
Subacute neuronopathic Gaucher's disease
MedGen UID:
78653
Concept ID:
C0268251
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.
Adamantinoma of long bones
MedGen UID:
83163
Concept ID:
C0334556
Neoplastic Process
A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton.
Autosomal recessive hypophosphatemic vitamin D refractory rickets
MedGen UID:
137975
Concept ID:
C0342643
Disease or Syndrome
Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth. In most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. The features of the disorder vary widely, even among affected members of the same family. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. More severely affected children experience slow growth and are shorter than their peers. They develop bone abnormalities that can interfere with movement and cause bone pain. The most noticeable of these abnormalities are bowed legs or knock knees (a condition in which the lower legs are positioned at an outward angle). These abnormalities become apparent with weight-bearing activities such as walking. If untreated, they tend to worsen with time. Other signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia. Researchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer. The different inheritance patterns are described below. Another rare type of the disorder is known as hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this condition is characterized by the excretion of high levels of calcium in the urine (hypercalciuria).
Chronic multifocal osteomyelitis
MedGen UID:
140822
Concept ID:
C0410422
Disease or Syndrome
Dysosteosclerosis
MedGen UID:
98150
Concept ID:
C0432262
Disease or Syndrome
Dysosteosclerosis is a rare bone dysplasia associated with neurodevelopmental deterioration. There is sclerosis and platyspondyly with progressive metaphyseal expansion and alteration of bone density. The early craniotubular bone modeling and clinical presentation resemble osteopetrosis (summary by Elcioglu et al., 2002).
Osteosclerosis - Stanescu type
MedGen UID:
140931
Concept ID:
C0432263
Disease or Syndrome
Axial osteosclerosis
MedGen UID:
98482
Concept ID:
C0432264
Disease or Syndrome
Osteopathia striata with cranial sclerosis
MedGen UID:
96590
Concept ID:
C0432268
Disease or Syndrome
Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae (Jenkins et al., 2009). In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability due to pressure on cranial nerves, e.g., deafness. Osteopathia striata is a frequent feature of focal dermal hypoplasia (FDH; 305600). Although early reports of familial cases of this disorder appeared to suggest autosomal dominant inheritance (see, e.g., Horan and Beighton, 1978 and Konig et al., 1996), reappraisal of the literature (Behninger and Rott, 2000; Rott et al., 2003) and the finding of a molecular basis for the disorder by Jenkins et al. (2009) confirms that the inheritance pattern is X-linked dominant. Affected males who survive have a more severe phenotype than affected females, and sporadic male cases may result from somatic mosaicism (Behninger and Rott, 2000).
Lenz-Majewski hyperostosis syndrome
MedGen UID:
98483
Concept ID:
C0432269
Disease or Syndrome
Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014).
Hyperphosphatasemia tarda
MedGen UID:
98484
Concept ID:
C0432272
Congenital Abnormality
SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease; both are disorders of osteoblast hyperactivity. The major clinical features of sclerosteosis are progressive skeletal overgrowth and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Distinctive facial features including asymmetric mandibular hypertrophy, frontal bossing, and midface hypoplasia are usually apparent by mid-childhood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (often leading to facial palsy) and entrapment of the eighth cranial nerve (often resulting in deafness in mid-childhood). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent. Based on a few case reports, it is also likely that the spectrum of SOST-related sclerosing bone dysplasias includes an autosomal dominant form of craniodiaphyseal dysplasia (CDD).
Infantile hypercalcemia
MedGen UID:
99194
Concept ID:
C0475732
Disease or Syndrome
Mental retardation X-linked syndromic 5
MedGen UID:
162924
Concept ID:
C0796254
Disease or Syndrome
X-linked mental retardation syndrome-5 is characterized by highly variable additional features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain, both between and within families (summary by Cacciagli et al., 2014). See 311510 for another X-linked mental retardation syndrome associated with basal ganglia disease (Waisman syndrome). See 220219 for another mental retardation syndrome with Dandy-Walker malformation.
Osteosclerosis with ichthyosis and fractures
MedGen UID:
331568
Concept ID:
C1833697
Disease or Syndrome
Osteopoikilosis and dacryocystitis
MedGen UID:
318939
Concept ID:
C1833698
Disease or Syndrome
Osteopoikilosis, Isolated
MedGen UID:
318940
Concept ID:
C1833699
Disease or Syndrome
Osteopetrosis autosomal dominant type 2
MedGen UID:
371629
Concept ID:
C1833700
Disease or Syndrome
The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII, Albers-Schoenberg disease). Onset of ARO is in infancy; findings may include fractures; poor growth; sclerosis of the skull base (with or without choanal stenosis or hydrocephalus) resulting in optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental abnormalities, odontomas, and risk for mandibular osteomyelitis; and hypocalcemia with tetanic seizures and secondary hyperparathyroidism. Without treatment maximal life span in ARO is ten years. Onset of IAO is in childhood; findings may include fractures after minor trauma, characteristic skeletal radiographic changes found incidentally, mild anemia, and occasional visual impairment secondary to optic nerve compression. Life expectancy in IAO is usually normal. Onset of ADOII is usually late childhood or adolescence; findings may include fractures (in any long bone and/or the posterior arch of a vertebra); scoliosis; hip osteoarthritis; osteomyelitis of the mandible or septic osteitis or osteoarthritis elsewhere. Cranial nerve compression is rare.
Cleidocranial dysplasia, forme fruste, dental anomalies only
MedGen UID:
325021
Concept ID:
C1838416
Disease or Syndrome
OTOPALATODIGITAL SYNDROME, TYPE I
MedGen UID:
374240
Concept ID:
C1839503
Disease or Syndrome
Oto-palato-digital syndrome, type II
MedGen UID:
337064
Concept ID:
C1844696
Congenital Abnormality
The otopalatodigital (OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type I (OPD1). Otopalatodigital syndrome type II (OPD2). Frontometaphyseal dysplasia (FMD). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD, females are less severely affected than related affected males. Males do not experience progression of skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. Prenatal lethality is most common in males with MNS. TODPD is a female limited condition, characterized by terminal skeletal dysplasia, pigmentary defects of the skin, and recurrent digital fibromata.
Pyknoachondrogenesis
MedGen UID:
337844
Concept ID:
C1849523
Disease or Syndrome
Raine syndrome
MedGen UID:
342416
Concept ID:
C1850106
Disease or Syndrome
Raine syndrome is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Radiographic studies show a generalized increase in the density of all bones and a marked increase in the ossification of the skull. The increased ossification of the basal structures of the skull and facial bones underlies the characteristic facial features, which include narrow prominent forehead, proptosis, depressed nasal bridge, and midface hypoplasia. Periosteal bone formation is also characteristic of this disorder and differentiates it from osteopetrosis and other known lethal and nonlethal osteosclerotic bone dysplasias. The periosteal bone formation typically extends along the diaphysis of long bones adjacent to areas of cellular soft tissue (summary by Simpson et al., 2009).
Osteopenia and sparse hair
MedGen UID:
337979
Concept ID:
C1850140
Disease or Syndrome
Roy Maroteaux Kremp syndrome
MedGen UID:
343282
Concept ID:
C1855164
Disease or Syndrome
Hypoparathyroidism retardation dysmorphism syndrome
MedGen UID:
340984
Concept ID:
C1855840
Disease or Syndrome
Ghosal syndrome
MedGen UID:
344739
Concept ID:
C1856465
Disease or Syndrome
Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood. In affected individuals, the long bones in the arms and legs are unusually dense and wide. The bone changes specifically affect the shafts of the long bones, called diaphyses, and areas near the ends of the bones called metaphyses. The bone abnormalities can lead to bowing of the legs and difficulty walking. Ghosal hematodiaphyseal dysplasia also causes scarring (fibrosis) of the bone marrow, which is the spongy tissue inside long bones where blood cells are formed. The abnormal bone marrow cannot produce enough red blood cells, which leads to anemia. Signs and symptoms of anemia that have been reported in people with Ghosal hematodiaphyseal dysplasia include extremely pale skin (pallor) and excessive tiredness (fatigue).
Gaucher disease type 3A
MedGen UID:
383926
Concept ID:
C1856491
Disease or Syndrome
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2. The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth. Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).
Gaucher disease type 3B
MedGen UID:
344746
Concept ID:
C1856492
Disease or Syndrome
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2. The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth. Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).
Gaucher disease, Norrbottnian type
MedGen UID:
383927
Concept ID:
C1856493
Disease or Syndrome
Diastrophic dysplasia, broad bone-platyspondylic variant
MedGen UID:
341735
Concept ID:
C1857255
Disease or Syndrome
Beemer Ertbruggen syndrome
MedGen UID:
347174
Concept ID:
C1859526
Disease or Syndrome
Cleidocranial dysplasia, forme fruste, with brachydactyly
MedGen UID:
350043
Concept ID:
C1861516
Disease or Syndrome
Axial osteomalacia
MedGen UID:
354730
Concept ID:
C1862372
Disease or Syndrome
Osteosclerosis with ichthyosis and premature ovarian failure
MedGen UID:
355875
Concept ID:
C1864942
Disease or Syndrome
Ossification of the posterior longitudinal ligament of the spine
MedGen UID:
355447
Concept ID:
C1865343
Disease or Syndrome
Ossification of the posterior longitudinal ligament of the spine (OPLL) can cause spinal-cord compression (Ono et al., 1977; Tsuyama, 1984). Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis. X-ray examination detects OPLL in 0.7 to 2.0% of adult outpatients with cervical disorders (Firooznia et al., 1982); the observed incidence increases to 3.7% in patients over 50 years of age (Ohtsuka et al., 1987).
Desmosterolosis
MedGen UID:
400801
Concept ID:
C1865596
Disease or Syndrome
Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Waterham et al., 2001).
KENNY-CAFFEY SYNDROME, TYPE 2
MedGen UID:
406287
Concept ID:
C1876180
Congenital Abnormality
Gaucher's disease, type 1
MedGen UID:
409531
Concept ID:
C1961835
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.
Otopalatodigital spectrum disorder
MedGen UID:
411701
Concept ID:
C2748918
Disease or Syndrome
Frontootopalatodigital Osteodysplasia
MedGen UID:
411702
Concept ID:
C2748919
Disease or Syndrome
Tooth agenesis, selective, 6
MedGen UID:
442698
Concept ID:
C2751297
Disease or Syndrome
MELORHEOSTOSIS, ISOLATED
MedGen UID:
460981
Concept ID:
C3149631
Disease or Syndrome
Melorheostosis with Osteopoikilosis
MedGen UID:
461045
Concept ID:
C3149695
Disease or Syndrome
Osteopetrosis Autosomal Dominant Type 2
MedGen UID:
465707
Concept ID:
C3179239
Disease or Syndrome
OSTEOGENESIS IMPERFECTA, TYPE XIII
MedGen UID:
766801
Concept ID:
C3553887
Disease or Syndrome
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
MedGen UID:
767579
Concept ID:
C3554665
Disease or Syndrome

Recent clinical studies

Etiology

Gogakos A, Logan JG, Waung JA, Bassett JH, Glüer CC, Reid DM, Felsenberg D, Roux C, Eastell R, Williams GR
Eur J Endocrinol 2014 Apr;170(4):637-44. Epub 2014 Mar 13 doi: 10.1530/EJE-13-1009. PMID: 24480136
Sohn S, Yoon JW, Chung CK
J Clin Densitom 2014 Jan-Mar;17(1):195-9. Epub 2013 May 30 doi: 10.1016/j.jocd.2013.04.005. [Epub ahead of print] PMID: 23726874
Sohn S, Chung CK
Calcif Tissue Int 2013 Jan;92(1):28-34. Epub 2012 Oct 27 doi: 10.1007/s00223-012-9662-x. [Epub ahead of print] PMID: 23104450
Maple-Brown LJ, Hughes J, Piers LS, Ward LC, Meerkin J, Eisman JA, Center JR, Pocock NA, Jerums G, O'Dea K
Bone 2012 Jul;51(1):123-30. Epub 2012 Apr 27 doi: 10.1016/j.bone.2012.04.011. [Epub ahead of print] PMID: 22561911
Di Martino A, Franceschi F, Papalia R, Marini M, Prossomariti G, Maffulli N, Denaro V
Surgeon 2012 Feb;10(1):20-4. Epub 2011 Feb 9 doi: 10.1016/j.surge.2011.01.001. [Epub ahead of print] PMID: 22233553

Diagnosis

Sohn S, Yoon JW, Chung CK
J Clin Densitom 2014 Jan-Mar;17(1):195-9. Epub 2013 May 30 doi: 10.1016/j.jocd.2013.04.005. [Epub ahead of print] PMID: 23726874
Lowitz T, Museyko O, Bousson V, Laouisset L, Kalender WA, Laredo JD, Engelke K
Osteoarthritis Cartilage 2013 Jul;21(7):957-64. Epub 2013 Apr 18 doi: 10.1016/j.joca.2013.04.006. [Epub ahead of print] PMID: 23602981
Wada K, Harada D, Michigami T, Tachikawa K, Nakano Y, Kashiwagi H, Yamashita S, Sano T, Seino Y
J Pediatr Endocrinol Metab 2013;26(5-6):575-7. doi: 10.1515/jpem-2013-0007. PMID: 23412864
Sohn S, Chung CK
Calcif Tissue Int 2013 Jan;92(1):28-34. Epub 2012 Oct 27 doi: 10.1007/s00223-012-9662-x. [Epub ahead of print] PMID: 23104450
Rivera M, Humeres P, González P
Clin Nucl Med 1999 Jan;24(1):51-3. PMID: 9890494

Therapy

Kacker R, Conners W, Zade J, Morgentaler A
J Urol 2014 Apr;191(4):1072-6. Epub 2013 Oct 23 doi: 10.1016/j.juro.2013.10.070. [Epub ahead of print] PMID: 24161998
Di Martino A, Franceschi F, Papalia R, Marini M, Prossomariti G, Maffulli N, Denaro V
Surgeon 2012 Feb;10(1):20-4. Epub 2011 Feb 9 doi: 10.1016/j.surge.2011.01.001. [Epub ahead of print] PMID: 22233553
Bradbury LA, Barlow S, Geoghegan F, Hannon RA, Stuckey SL, Wass JA, Russell RG, Brown MA, Duncan EL
Osteoporos Int 2012 Jan;23(1):285-94. Epub 2011 Jul 8 doi: 10.1007/s00198-011-1658-2. [Epub ahead of print] PMID: 21739105
Pullerits R, d'Elia HF, Tarkowski A, Carlsten H
Rheumatology (Oxford) 2009 Jul;48(7):785-90. Epub 2009 May 4 doi: 10.1093/rheumatology/kep079. [Epub ahead of print] PMID: 19416946
Rejnmark L, Vestergaard P, Hermann AP, Brot C, Eiken P, Mosekilde L
Calcif Tissue Int 2008 Jan;82(1):1-11. Epub 2008 Jan 4 doi: 10.1007/s00223-007-9087-0. [Epub ahead of print] PMID: 18175033

Prognosis

Di Martino A, Franceschi F, Papalia R, Marini M, Prossomariti G, Maffulli N, Denaro V
Surgeon 2012 Feb;10(1):20-4. Epub 2011 Feb 9 doi: 10.1016/j.surge.2011.01.001. [Epub ahead of print] PMID: 22233553
Bradbury LA, Barlow S, Geoghegan F, Hannon RA, Stuckey SL, Wass JA, Russell RG, Brown MA, Duncan EL
Osteoporos Int 2012 Jan;23(1):285-94. Epub 2011 Jul 8 doi: 10.1007/s00198-011-1658-2. [Epub ahead of print] PMID: 21739105
Rejnmark L, Vestergaard P, Hermann AP, Brot C, Eiken P, Mosekilde L
Calcif Tissue Int 2008 Jan;82(1):1-11. Epub 2008 Jan 4 doi: 10.1007/s00223-007-9087-0. [Epub ahead of print] PMID: 18175033
Sigurdsson G, Franzson L
J Intern Med 2001 Jul;250(1):51-6. PMID: 11454142
Zerahn B, Kofoed H, Borgwardt A
Foot Ankle Int 2000 Apr;21(4):285-9. PMID: 10808967

Clinical prediction guides

Sohn S, Yoon JW, Chung CK
J Clin Densitom 2014 Jan-Mar;17(1):195-9. Epub 2013 May 30 doi: 10.1016/j.jocd.2013.04.005. [Epub ahead of print] PMID: 23726874
Lowitz T, Museyko O, Bousson V, Laouisset L, Kalender WA, Laredo JD, Engelke K
Osteoarthritis Cartilage 2013 Jul;21(7):957-64. Epub 2013 Apr 18 doi: 10.1016/j.joca.2013.04.006. [Epub ahead of print] PMID: 23602981
Sohn S, Chung CK
Calcif Tissue Int 2013 Jan;92(1):28-34. Epub 2012 Oct 27 doi: 10.1007/s00223-012-9662-x. [Epub ahead of print] PMID: 23104450
Maple-Brown LJ, Hughes J, Piers LS, Ward LC, Meerkin J, Eisman JA, Center JR, Pocock NA, Jerums G, O'Dea K
Bone 2012 Jul;51(1):123-30. Epub 2012 Apr 27 doi: 10.1016/j.bone.2012.04.011. [Epub ahead of print] PMID: 22561911
Di Martino A, Franceschi F, Papalia R, Marini M, Prossomariti G, Maffulli N, Denaro V
Surgeon 2012 Feb;10(1):20-4. Epub 2011 Feb 9 doi: 10.1016/j.surge.2011.01.001. [Epub ahead of print] PMID: 22233553

Recent systematic reviews

Konstantinidis I, Papageorgiou SN, Kyrgidis A, Tzellos TG, Kouvelas D
Rev Recent Clin Trials 2013 Mar;8(1):48-60. PMID: 23016823
Bradbury LA, Barlow S, Geoghegan F, Hannon RA, Stuckey SL, Wass JA, Russell RG, Brown MA, Duncan EL
Osteoporos Int 2012 Jan;23(1):285-94. Epub 2011 Jul 8 doi: 10.1007/s00198-011-1658-2. [Epub ahead of print] PMID: 21739105
Lee YH, Song GG
Korean J Intern Med 2011 Sep;26(3):340-7. Epub 2011 Sep 13 doi: 10.3904/kjim.2011.26.3.340. PMID: 22016595Free PMC Article
Lee RH, Lyles KW, Colón-Emeric C
Am J Geriatr Pharmacother 2010 Feb;8(1):34-46. doi: 10.1016/j.amjopharm.2010.02.003. PMID: 20226391Free PMC Article
Jugdaohsingh R, O'Connell MA, Sripanyakorn S, Powell JJ
Proc Nutr Soc 2006 Aug;65(3):291-310. PMID: 16923313

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