Format

Send to:

Choose Destination

Coxa valga

MedGen UID:
116080
Concept ID:
C0239137
Anatomical Abnormality; Finding
Synonym: Coxa valga deformity
SNOMED CT: Coxa valga (299236004); Hip joint valgus deformity (299236004)
 
HPO: HP:0002673

Definition

Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). [from HPO]

Conditions with this feature

Fucosidosis
MedGen UID:
5288
Concept ID:
C0016788
Disease or Syndrome
An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)
Marinesco-Sjögren syndrome
MedGen UID:
6222
Concept ID:
C0024814
Disease or Syndrome
Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.
Melnick-Needles syndrome
MedGen UID:
6292
Concept ID:
C0025237
Disease or Syndrome
Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.
Mucopolysaccharidosis, MPS-IV-A
MedGen UID:
43375
Concept ID:
C0086651
Disease or Syndrome
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.
Mucopolysaccharidosis, MPS-IV-B
MedGen UID:
43376
Concept ID:
C0086652
Disease or Syndrome
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.
Hurler syndrome
MedGen UID:
39698
Concept ID:
C0086795
Disease or Syndrome
An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues.
Radial aplasia-thrombocytopenia syndrome
MedGen UID:
61235
Concept ID:
C0175703
Disease or Syndrome
A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radius bone.
Cerebrooculofacioskeletal syndrome 1
MedGen UID:
66320
Concept ID:
C0220722
Congenital Abnormality
A rare degenerative genetic disorder with an autosomal recessive pattern of inheritance that primarily affects the central nervous system. It is caused in some cases by mutations in the Cockayne syndrome group B gene, CSB/ERCC6, or the xeroderma pigmentosum genes: XPD/ERCC2, XPG/ERCC5, XPF/ERCC1, which are all involved in the transcription-coupled nucleotide excision repair pathway of DNA repair. It is currently thought to be part of the spectrum of disorders within Cockayne syndrome. Clinical signs at birth include microcephaly, hypotonia, abnormal reflexes and involuntary eye movements. The clinical prognosis is fatal with survivability beyond 5 years unlikely.
Weaver syndrome
MedGen UID:
120511
Concept ID:
C0265210
Disease or Syndrome
A rare syndrome caused by mutations in the EZH2 gene, and rarely mutations in the NSD1 gene. It is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability.
Marshall syndrome
MedGen UID:
82694
Concept ID:
C0265235
Disease or Syndrome
A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.
Oto-palato-digital syndrome, type I
MedGen UID:
78542
Concept ID:
C0265251
Disease or Syndrome
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
Coffin-Lowry syndrome
MedGen UID:
75556
Concept ID:
C0265252
Disease or Syndrome
A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.
Craniometaphyseal dysplasia
MedGen UID:
82702
Concept ID:
C0265292
Congenital Abnormality
Craniometadiaphyseal dysplasia (CRMDD) is characterized clinically by macrocephaly with frontal prominence, dental hypoplasia, and increased bone fragility. Diagnostic radiologic features include thin bones in the superior part of calvaria with prominent wormian bones, diaphyseal widening of the long tubular bones in early childhood with wide undermineralized metaphyses in older individuals, widened ribs and clavicles, and broadening of short tubular bones with increased transparency and thin cortices (summary by Dhar et al., 2010).
Leri-Weill dyschondrosteosis
MedGen UID:
75562
Concept ID:
C0265309
Disease or Syndrome
A bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the SHOX gene. It is characterized by short long bones in the arms and legs, short stature, and abnormalities of the wrist and forearm bones which may cause pain and limit wrist movement.
GM1 gangliosidosis type 2
MedGen UID:
120625
Concept ID:
C0268272
Disease or Syndrome
GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). GM1 gangliosidosis includes phenotypes that range from severe to mild. Type I (infantile) begins before age one year; progressive central nervous system dysfunction leads to spasticity, deafness, blindness, and decerebrate rigidity. Life expectancy is two to three years. Type II can be subdivided into the late-infantile form and juvenile form. Type II, late-infantile form begins between ages one and three years; life expectancy is five to ten years. Type II, juvenile form begins between ages three and ten years with insidious plateauing of motor and cognitive development followed by slow regression. Type II may or may not include skeletal dysplasia. Type III begins in the second to third decade with extrapyramidal signs, gait disturbance, and cardiomyopathy; and can be misidentified as Parkinson disease. Intellectual impairment is common late in the disease; skeletal involvement includes short stature, kyphosis, and scoliosis of varying severity. MPS IVB is characterized by skeletal changes, including short stature and skeletal dysplasia. Affected children have no distinctive clinical findings at birth. The severe form is usually apparent between ages one and three years, and the attenuated form in late childhood or adolescence. In addition to skeletal involvement, significant morbidity can result from respiratory compromise, obstructive sleep apnea, valvular heart disease, hearing impairment, corneal clouding, and spinal cord compression. Intellect is normal unless spinal cord compression leads to central nervous system compromise.
Cutis laxa, X-linked
MedGen UID:
82793
Concept ID:
C0268353
Congenital Abnormality
Menkes disease, occipital horn syndrome (OHS), and ATP7A-related distal motor neuropathy (DMN) are disorders of copper transport caused by pathogenic variants in ATP7A (encoding a copper-transporting ATPase). Infants with classic Menkes disease appear healthy until age two to three months, when loss of developmental milestones, hypotonia, seizures, and failure to thrive occur. The diagnosis is usually suspected when infants exhibit typical neurologic changes and concomitant characteristic changes of the hair (short, sparse, coarse, twisted, and often lightly pigmented). Temperature instability and hypoglycemia may be present in the neonatal period. Death usually occurs by age three years. OHS is characterized by "occipital horns," distinctive wedge-shaped calcifications at the sites of attachment of the trapezius muscle and the sternocleidomastoid muscle to the occipital bone. Occipital horns may be clinically palpable or observed on skull radiographs. Individuals with OHS also have lax skin and joints, bladder diverticula, inguinal hernias, and vascular tortuosity. Intellect is normal or slightly reduced. ATP7A-related DMN, an adult-onset disorder resembling Charcot-Marie-Tooth disease, shares none of the clinical or biochemical abnormalities characteristic of Menkes disease or OHS.
Wolcott-Rallison dysplasia
MedGen UID:
140926
Concept ID:
C0432217
Disease or Syndrome
A rare, autosomal recessive condition caused by mutation(s) in the EIF2AK3 gene, which encodes translation initiation factor 2-alpha kinase-3. The condition is characterized by the following: permanent insulin-dependent diabetes, with onset in the neonatal period or infancy; epiphyseal dysplasia; deficient bone mineralization, diagnosed in the first year or two of life; and liver dysfunction, occurring in early childhood. Other features may include intellectual deficit, hypothyroidism, renal dysfunction, neutropenia, and thyroid dysfunction. The manifestations and clinical course are variable.
Hypertrichotic osteochondrodysplasia Cantu type
MedGen UID:
208647
Concept ID:
C0795905
Disease or Syndrome
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
MedGen UID:
722057
Concept ID:
C1300285
Disease or Syndrome
).
Holoprosencephaly-craniosynostosis syndrome
MedGen UID:
330464
Concept ID:
C1832424
Disease or Syndrome
Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.
Ophthalmomandibulomelic dysplasia
MedGen UID:
331604
Concept ID:
C1833872
Disease or Syndrome
Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested.
Spondylometaphyseal dysplasia, A4 type
MedGen UID:
324620
Concept ID:
C1836862
Disease or Syndrome
A rare primary bone dysplasia disorder with characteristics of disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.
Prieto syndrome
MedGen UID:
374294
Concept ID:
C1839730
Disease or Syndrome
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.
Paternal uniparental disomy of chromosome 14
MedGen UID:
330856
Concept ID:
C1842466
Disease or Syndrome
A rare genetic disease with characteristics of polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, and muscular hypotonia. There is increased risk of hepatoblastoma. The syndrome is an imprinting disorder involving genes within the imprinted region of chromosome 14q32.
Alpha thalassemia-X-linked intellectual disability syndrome
MedGen UID:
337145
Concept ID:
C1845055
Disease or Syndrome
A rare, X-linked recessive inherited syndrome caused by mutations in the ATRX gene. It is characterized by intellectual disability, developmental delays, hypotonia, widely spaced eyes, small nose, low-set ears, tented upper lip, skeletal abnormalities, and a mild form of alpha thalassemia.
X-linked spondyloepimetaphyseal dysplasia
MedGen UID:
376281
Concept ID:
C1848097
Disease or Syndrome
A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses.
Spondyloepiphyseal dysplasia tarda with mental retardation
MedGen UID:
338603
Concept ID:
C1849053
Disease or Syndrome
Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.
Epiphyseal dysplasia, multiple, with myopia and conductive deafness
MedGen UID:
377049
Concept ID:
C1851536
Disease or Syndrome
Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.
Metaphyseal acroscyphodysplasia
MedGen UID:
344453
Concept ID:
C1855243
Disease or Syndrome
Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.
Coloboma of macula and skeletal anomalies
MedGen UID:
341812
Concept ID:
C1857619
Disease or Syndrome
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.
Ulna metaphyseal dysplasia syndrome
MedGen UID:
348149
Concept ID:
C1860615
Disease or Syndrome
Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
MedGen UID:
349489
Concept ID:
C1862373
Disease or Syndrome
Hypophosphatemic rickets, autosomal recessive, 2
MedGen UID:
442380
Concept ID:
C2750078
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. 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.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).
Congenital disorder of glycosylation, type IIa
MedGen UID:
443956
Concept ID:
C2931008
Disease or Syndrome
(14q21).
Hirsutism-skeletal dysplasia-intellectual disability syndrome
MedGen UID:
460802
Concept ID:
C3149452
Disease or Syndrome
Chromosome 17q23.1-q23.2 duplication syndrome
MedGen UID:
462230
Concept ID:
C3150880
Disease or Syndrome
17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.
Geleophysic dysplasia 1
MedGen UID:
479777
Concept ID:
C3278147
Disease or Syndrome
Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2-related geleophysic dysplasia.
Coffin-Siris syndrome 1
MedGen UID:
482831
Concept ID:
C3281201
Disease or Syndrome
Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.
Sotos syndrome 2
MedGen UID:
766574
Concept ID:
C3553660
Disease or Syndrome
A multiple congenital anomalies syndrome characterised by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behaviour, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhoea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. The disease is caused by heterozygous mutation in the NFIX gene on chromosome 19p13.
Developmental dysplasia of the hip 2
MedGen UID:
811575
Concept ID:
C3715079
Disease or Syndrome
Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in that age group (summary by Feldman et al., 2013). For discussion of genetic heterogeneity of developmental dysplasia of the hip, see DDH1 (142700).
Desbuquois dysplasia 1
MedGen UID:
860583
Concept ID:
C4012146
Disease or Syndrome
Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009). Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois Dysplasia DBQD2 (615777) is caused by mutation in the XYLT1 gene (608124) on chromosome 16p12. Two unrelated patients with immunodeficiency-23 (IMD23; 615816), due to mutation in the PGM3 gene (172100), were reported to have skeletal features reminiscent of DBQD.
Desbuquois dysplasia 2
MedGen UID:
862731
Concept ID:
C4014294
Disease or Syndrome
Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by Bui et al., 2014). For a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (251450).
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
MedGen UID:
865814
Concept ID:
C4017377
Finding
Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013). Genetic Heterogeneity of Spondyloepimetaphyseal Dysplasia with Joint Laxity Also see SEMDJL2 (603546), caused by mutation in the KIF22 gene (603213) on chromosome 16p11, and SEMDJL3 (618395), caused by mutation in the EXOC6B gene (607880) on chromosome 2p13.
Spondyloepiphyseal dysplasia, stanescu type
MedGen UID:
905084
Concept ID:
C4225273
Disease or Syndrome
Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).
Singleton-Merten syndrome 1
MedGen UID:
899946
Concept ID:
C4225427
Disease or Syndrome
Singleton-Merten syndrome (SGMRT) is an uncommon autosomal dominant disorder characterized by abnormalities of blood vessels, teeth, and bone. Calcifications of the aorta and aortic and mitral valves occur in childhood or puberty and can lead to early death. Dental findings include delayed primary tooth exfoliation and permanent tooth eruption, truncated tooth root formation, early-onset periodontal disease, and severe root and alveolar bone resorption associated with dysregulated mineralization, leading to tooth loss. Osseous features consist of osteoporosis, either generalized or limited to distal extremities, distal limb osteolysis, widened medullary cavities, and easy tearing of tendons from bone. Less common features are mild facial dysmorphism (high anterior hair line, broad forehead, smooth philtrum, thin upper vermilion border), generalized muscle weakness, psoriasis, early-onset glaucoma, and recurrent infections. The disorder manifests with variable inter- and intrafamilial phenotypes (summary by Rutsch et al., 2015). Genetic Heterogeneity of Singleton-Merten Syndrome An atypical form of Singleton-Merten syndrome (SGMRT2; 616298) is caused by mutation in the DDX58 gene (609631) on chromosome 9p21.
Frontometaphyseal dysplasia 1
MedGen UID:
923943
Concept ID:
C4281559
Congenital Abnormality
The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). 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 FMD1, females are less severely affected than related affected males. Males do not experience a progressive 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. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
MedGen UID:
934653
Concept ID:
C4310686
Disease or Syndrome
Trichothiodystrophy 6, nonphotosensitive
MedGen UID:
934752
Concept ID:
C4310785
Disease or Syndrome
Anauxetic dysplasia 2
MedGen UID:
1384439
Concept ID:
C4479357
Disease or Syndrome
Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017). For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095).
Immunoskeletal dysplasia with neurodevelopmental abnormalities
MedGen UID:
1381460
Concept ID:
C4479452
Disease or Syndrome
Cohen-Gibson syndrome
MedGen UID:
1386939
Concept ID:
C4479654
Disease or Syndrome
EED-related overgrowth is characterized by fetal or early childhood overgrowth (tall stature, macrocephaly, large hands and feet, and advanced bone age) and intellectual disability that ranges from mild to severe. To date, EED overgrowth has been reported in eight individuals.
Schwartz Jampel Syndrome, Type 1
MedGen UID:
1647990
Concept ID:
C4551479
Disease or Syndrome
Carpenter syndrome 1
MedGen UID:
1644017
Concept ID:
C4551510
Disease or Syndrome
Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). Genetic Heterogeneity of Carpenter Syndrome Carpenter syndrome-2 (CRPT2; 614976), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (604267).
Meier-Gorlin syndrome 1
MedGen UID:
1641240
Concept ID:
C4552001
Disease or Syndrome
The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin Syndrome Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12. An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22.
Ehlers-Danlos syndrome, spondylodysplastic type, 1
MedGen UID:
1646889
Concept ID:
C4552003
Disease or Syndrome
Ehlers-Danlos syndrome spondylodysplastic type 1 is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature (Guo et al., 2013). Genetic Heterogeneity of Ehlers-Danlos Syndrome, Spondylodysplastic Type See EDSSPD2 (615349), caused by mutation in the B3GALT6 gene (615291), and EDSSPD3 (612350), caused by mutation in the SLC39A13 gene (608735).
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
MedGen UID:
1676818
Concept ID:
C5193055
Disease or Syndrome
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development (Ashikov et al., 2018).

Recent clinical studies

Etiology

Hsu PJ, Wu KW, Lee CC, Lin SC, Kuo KN, Wang TM
Bone Joint J 2020 Sep;102-B(9):1242-1247. doi: 10.1302/0301-620X.102B9.BJJ-2020-0340.R1. PMID: 32862682
Hsieh HC, Wang TM, Kuo KN, Huang SC, Wu KW
Clin Orthop Relat Res 2019 Nov;477(11):2568-2576. doi: 10.1097/CORR.0000000000000903. PMID: 31425278Free PMC Article
Lee WC, Kao HK, Yang WE, Ho PC, Chang CH
J Pediatr Orthop 2016 Jul-Aug;36(5):511-5. doi: 10.1097/BPO.0000000000000480. PMID: 25887815
Wang YZ, Park KW, Oh CS, Ahn YS, Kang QL, Jung ST, Song HR
BMC Musculoskelet Disord 2015 Mar 15;16:54. doi: 10.1186/s12891-015-0514-5. PMID: 25888017Free PMC Article
Coskun Benlidayi I, Guzel R, Basaran S, Aksungur EH, Seydaoglu G
Surg Radiol Anat 2015 May;37(4):369-76. Epub 2014 Aug 12 doi: 10.1007/s00276-014-1359-6. PMID: 25113012

Diagnosis

Zhang X, Liang H, Liu W, Li X, Zhang W, Shang X
Medicine (Baltimore) 2019 Jul;98(30):e16485. doi: 10.1097/MD.0000000000016485. PMID: 31348255Free PMC Article
Park H, Ryu KJ, Kim HW, Hwang JH, Han JW, Lee DH
Clin Orthop Relat Res 2016 May;474(5):1283-91. Epub 2016 Jan 29 doi: 10.1007/s11999-016-4712-8. PMID: 26825816Free PMC Article
Chang CH, Wang YC, Ho PC, Hwang AW, Kao HK, Lee WC, Yang WE, Kuo KN
Clin Orthop Relat Res 2015 Nov;473(11):3675-81. Epub 2015 Aug 20 doi: 10.1007/s11999-015-4515-3. PMID: 26290346Free PMC Article
Novais EN, Bixby SD, Rennick J, Carry PM, Kim YJ, Millis MB
Clin Orthop Relat Res 2014 Feb;472(2):665-73. doi: 10.1007/s11999-013-3127-z. PMID: 23943527Free PMC Article
Beltran LS, Mayo JD, Rosenberg ZS, De Tuesta MD, Martin O, Neto LP Sr, Bencardino JT
AJR Am J Roentgenol 2012 Oct;199(4):879-83. doi: 10.2214/AJR.11.8193. PMID: 22997382

Therapy

Kane C, Jo J, Siegel J, Matuszewski PE, Swart E
Injury 2020 Feb;51(2):357-360. Epub 2019 Oct 22 doi: 10.1016/j.injury.2019.10.068. PMID: 31679832
Yılmaz G, Bakırcıoğlu S
Acta Orthop Traumatol Turc 2019 Mar;53(2):100-105. Epub 2018 Dec 13 doi: 10.1016/j.aott.2018.11.002. PMID: 30554836Free PMC Article
Song HK, Choi HJ, Yang KH
Injury 2016 Dec;47(12):2743-2748. Epub 2016 Oct 19 doi: 10.1016/j.injury.2016.10.022. PMID: 27793326
Park H, Ryu KJ, Kim HW, Hwang JH, Han JW, Lee DH
Clin Orthop Relat Res 2016 May;474(5):1283-91. Epub 2016 Jan 29 doi: 10.1007/s11999-016-4712-8. PMID: 26825816Free PMC Article
Chen H, Hu X, Tang H, Yang G, Xiang M
Biomed Res Int 2015;2015:971216. Epub 2015 Nov 26 doi: 10.1155/2015/971216. PMID: 26693491Free PMC Article

Prognosis

Hsieh HC, Wang TM, Kuo KN, Huang SC, Wu KW
Clin Orthop Relat Res 2019 Nov;477(11):2568-2576. doi: 10.1097/CORR.0000000000000903. PMID: 31425278Free PMC Article
Lee WC, Kao HK, Yang WE, Ho PC, Chang CH
J Pediatr Orthop 2016 Jul-Aug;36(5):511-5. doi: 10.1097/BPO.0000000000000480. PMID: 25887815
Wang YZ, Park KW, Oh CS, Ahn YS, Kang QL, Jung ST, Song HR
BMC Musculoskelet Disord 2015 Mar 15;16:54. doi: 10.1186/s12891-015-0514-5. PMID: 25888017Free PMC Article
Coskun Benlidayi I, Guzel R, Basaran S, Aksungur EH, Seydaoglu G
Surg Radiol Anat 2015 May;37(4):369-76. Epub 2014 Aug 12 doi: 10.1007/s00276-014-1359-6. PMID: 25113012
Novais EN, Bixby SD, Rennick J, Carry PM, Kim YJ, Millis MB
Clin Orthop Relat Res 2014 Feb;472(2):665-73. doi: 10.1007/s11999-013-3127-z. PMID: 23943527Free PMC Article

Clinical prediction guides

Zhang X, Liang H, Liu W, Li X, Zhang W, Shang X
Medicine (Baltimore) 2019 Jul;98(30):e16485. doi: 10.1097/MD.0000000000016485. PMID: 31348255Free PMC Article
Kutzner KP, Freitag T, Donner S, Kovacevic MP, Bieger R
Arch Orthop Trauma Surg 2017 Mar;137(3):431-439. Epub 2017 Feb 2 doi: 10.1007/s00402-017-2640-z. PMID: 28154993Free PMC Article
Coskun Benlidayi I, Guzel R, Basaran S, Aksungur EH, Seydaoglu G
Surg Radiol Anat 2015 May;37(4):369-76. Epub 2014 Aug 12 doi: 10.1007/s00276-014-1359-6. PMID: 25113012
Novais EN, Bixby SD, Rennick J, Carry PM, Kim YJ, Millis MB
Clin Orthop Relat Res 2014 Feb;472(2):665-73. doi: 10.1007/s11999-013-3127-z. PMID: 23943527Free PMC Article
Beltran LS, Mayo JD, Rosenberg ZS, De Tuesta MD, Martin O, Neto LP Sr, Bencardino JT
AJR Am J Roentgenol 2012 Oct;199(4):879-83. doi: 10.2214/AJR.11.8193. PMID: 22997382

Recent systematic reviews

Vafaeian B, Zonoobi D, Mabee M, Hareendranathan AR, El-Rich M, Adeeb S, Jaremko JL
Osteoarthritis Cartilage 2017 Apr;25(4):438-447. Epub 2016 Nov 9 doi: 10.1016/j.joca.2016.10.023. PMID: 27836678

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center