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Metaphyseal chondrodysplasia, McKusick type(CHH)

MedGen UID:
67398
Concept ID:
C0220748
Disease or Syndrome
Synonyms: Cartilage hair hypoplasia like syndrome; Cartilage hair syndrome; Cartilage-Hair Hypoplasia; Cartilage-hair hypoplasia; Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders; CHH; McKusick's metaphyseal chondrodysplasia syndrome; metaphyseal chondrodysplasia, recessive type
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Cartilage hair syndrome (7720002); Metaphyseal chondrodysplasia, McKusick type (7720002); Cartilage-hair hypoplasia syndrome (7720002)
 
Gene: RMRP
Cytogenetic location: 9p13.3
OMIM®: 250250
Orphanet: ORPHA175

Disease characteristics

The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes: Metaphyseal dysplasia without hypotrichosis (MDWH), Cartilage-hair hypoplasia (CHH), and Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature which is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility and often fine silky hair, immunodeficiency, anemia, impaired spermatogenesis, gastrointestinal dysfunction, and increased risk for malignancy. The most severe phenotype (AD), which has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Christian T Thiel   view full author information

Additional descriptions

From OMIM
Cartilage-hair hypoplasia is a form of short-limbed dwarfism due to skeletal dysplasia, which was first recognized by McKusick et al. (1965) in the Old Order Amish, a religious isolate (see also McKusick, 1978). Makitie et al. (1995) gave an extensive review of CHH.  http://www.omim.org/entry/250250
From GHR
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. People with cartilage-hair hypoplasia have unusually short limbs and short stature from birth. They typically have malformations in the cartilage near the ends of the long bones in the arms and legs (metaphyseal chondrodysplasia), which then affects development of the bone itself. Most people with cartilage-hair hypoplasia are unusually flexible in some joints, but they may have difficulty extending their elbows fully. Affected individuals have hair that is lighter in color than that of other family members because the core of each hair, which contains some of the pigment that contributes the hair's color, is missing. The missing core also makes each strand of hair thinner, causing the hair to have a sparse appearance overall. Unusually light-colored skin (hypopigmentation), malformed nails, and dental abnormalities may also be seen in this disorder. The extent of the immune deficiency in cartilage-hair hypoplasia varies from mild to severe. Affected individuals with the most severe immune problems are considered to have severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi and are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system. Most people with cartilage-hair hypoplasia, even those who have milder immune deficiency, experience infections of the respiratory system, ears, and sinuses. In particular, the chicken pox virus (varicella) often causes dangerous infections in people with this disorder. Autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs, occur in some people with cartilage-hair hypoplasia. Affected individuals are also at an increased risk of developing cancer, particularly certain skin cancers (basal cell carcinomas), cancer of blood-forming cells (leukemia), and cancer of immune system cells (lymphoma). Some people with cartilage-hair hypoplasia experience gastrointestinal problems. These problems may include an inability to properly absorb nutrients or intolerance of a protein called gluten found in wheat and other grains (celiac disease). Affected individuals may have Hirschsprung disease, an intestinal disorder that causes severe constipation, intestinal blockage, and enlargement of the colon. Narrowing of the anus (anal stenosis) or blockage of the esophagus (esophageal atresia) may also occur.  http://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Neonatal short-limb short stature
MedGen UID:
501056
Concept ID:
CN007851
Finding
A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
Lymphoma
MedGen UID:
505322
Concept ID:
CN002422
Finding
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A neoplasm of the skin.
Mucopolysacchariduria
MedGen UID:
425962
Concept ID:
CN007161
Finding
Excessive amounts of mucopolysaccharide in the urine.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Depressed nasal ridge
MedGen UID:
334631
Concept ID:
C1842876
Finding
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Anteverted nares
MedGen UID:
339940
Concept ID:
C1853244
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Large face
MedGen UID:
411263
Concept ID:
C2748652
Finding
Abnormality of the palate
MedGen UID:
427798
Concept ID:
CN000169
Finding
Any abnormality of the palate, i.e., of roof of the mouth).
Gingival overgrowth
MedGen UID:
504394
Concept ID:
CN000205
Finding
Hyperplasia of the gingiva (FMA:59762, that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Brachycephaly
MedGen UID:
504407
Concept ID:
CN000240
Finding
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Convex nasal ridge
MedGen UID:
786052
Concept ID:
CN000415
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Sparse eyebrow
MedGen UID:
500888
Concept ID:
CN000501
Finding
Decreased density/number and/or decreased diameter of eyebrow hairs.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Blue sclerae
MedGen UID:
342813
Concept ID:
C1853175
Finding
Abnormal retinal pigmentation
MedGen UID:
350681
Concept ID:
C1862475
Finding
Hypermetropia
MedGen UID:
504484
Concept ID:
CN000506
Finding
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Myopia
MedGen UID:
504487
Concept ID:
CN000511
Finding
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Aplasia/Hypoplasia affecting the eye
MedGen UID:
446891
Concept ID:
CN007083
Finding
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Macrotia
MedGen UID:
349900
Concept ID:
C1860838
Finding
Neural tube defect
MedGen UID:
18009
Concept ID:
C0027794
Finding
Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (206500) (Detrait et al., 2005). Spina bifida occulta (SBO) is a bony defect of the spine covered by normal skin. It is mild form of spina bifida and is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634).
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Reduced tendon reflexes
MedGen UID:
427865
Concept ID:
CN001205
Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Neural tube defect
MedGen UID:
18009
Concept ID:
C0027794
Finding
Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (206500) (Detrait et al., 2005). Spina bifida occulta (SBO) is a bony defect of the spine covered by normal skin. It is mild form of spina bifida and is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634).
Short thorax
MedGen UID:
140876
Concept ID:
C0426789
Finding
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Flaring of lower rib cage
MedGen UID:
381581
Concept ID:
C1855196
Finding
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Limited elbow extension
MedGen UID:
400659
Concept ID:
C1865003
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Brachycephaly
MedGen UID:
504407
Concept ID:
CN000240
Finding
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Pectus carinatum
MedGen UID:
504592
Concept ID:
CN000722
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the rib.
Narrow chest
MedGen UID:
504594
Concept ID:
CN000728
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Joint hypermobility
MedGen UID:
504821
Concept ID:
CN001265
Finding
The ability of a joint to move beyond its normal range of motion.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Abnormality of pelvic girdle bone morphology
MedGen UID:
428305
Concept ID:
CN002405
Finding
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Skeletal dysplasia
MedGen UID:
505316
Concept ID:
CN002411
Finding
A general term describing features characterized by abnormal development of bones and connective tissues.
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Lumbar hyperlordosis
MedGen UID:
505413
Concept ID:
CN002659
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Micromelia
MedGen UID:
505428
Concept ID:
CN002699
Finding
The presence of abnormally small extremities.
Abnormality of the tibia
MedGen UID:
446462
Concept ID:
CN002706
Finding
Abnormality of the tibia (shinbone).
Abnormality of the hip bone
MedGen UID:
425136
Concept ID:
CN002954
Finding
An abnormality of the hip bone.
Hyperlordosis
MedGen UID:
505513
Concept ID:
CN002983
Finding
Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
Abnormal form of the vertebral bodies
MedGen UID:
428336
Concept ID:
CN002988
Finding
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short palm.
Abnormality of bone mineral density
MedGen UID:
428073
Concept ID:
CN003849
Finding
This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.
Accelerated skeletal maturation
MedGen UID:
428158
Concept ID:
CN004973
Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Multiple enchondromatosis
MedGen UID:
428553
Concept ID:
CN005048
Finding
Abnormality of the epiphyses
MedGen UID:
425804
Concept ID:
CN005226
Finding
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Narrow vertebral interpedicular distance
MedGen UID:
428815
Concept ID:
CN007436
Finding
A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.
Abnormality of the distal phalanx of finger
MedGen UID:
447130
Concept ID:
CN008689
Finding
Any anomaly of distal phalanx of finger.
Metaphyseal dysplasia
MedGen UID:
451633
Concept ID:
CN117151
Finding
The presence of dysplastic regions in metaphyseal bones.
Abnormal vertebral ossification
MedGen UID:
451888
Concept ID:
CN117462
Finding
An abnormality of the formation and mineralization of one or more vertebrae.
Malabsorption
MedGen UID:
368423
Concept ID:
C1963165
Finding
Abnormality of the pancreas
MedGen UID:
427891
Concept ID:
CN001576
Finding
An abnormality of the pancreas.
Esophageal atresia
MedGen UID:
505062
Concept ID:
CN001837
Finding
A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Aplasia/Hypoplasia of the abdominal wall musculature
MedGen UID:
447243
Concept ID:
CN009150
Finding
Absence or underdevelopment of the abdominal musculature.
Fine hair
MedGen UID:
98401
Concept ID:
C0423867
Finding
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Sparse facial hair
MedGen UID:
488981
Concept ID:
C2017869
Finding
Sparse eyebrow
MedGen UID:
500888
Concept ID:
CN000501
Finding
Decreased density/number and/or decreased diameter of eyebrow hairs.
Fair hair
MedGen UID:
500923
Concept ID:
CN002075
Finding
A lesser degree of hair pigmentation than would otherwise be expected.
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A neoplasm of the skin.
Abnormal hair quantity
MedGen UID:
489172
Concept ID:
CN167090
Finding
An abnormal amount of hair.
Arrhythmia
MedGen UID:
66750
Concept ID:
C0237314
Finding
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Abnormality of the cardiac septa
MedGen UID:
428275
Concept ID:
CN001520
Finding
An anomaly of the intra-atrial or intraventricular septum.
Neutropenia
MedGen UID:
18030
Concept ID:
C0027947
Disease or Syndrome
An abnormal decrease in the number of neutrophils, a type of white blood cell.
Anemia
MedGen UID:
56401
Concept ID:
C0162119
Finding
A laboratory test result which indicates decreased levels of hemoglobin in a biological specimen.
Hypogammaglobulinemia
MedGen UID:
196654
Concept ID:
C0745242
Finding
Lymphopenia
MedGen UID:
409568
Concept ID:
C1963164
Finding
Abnormality of neutrophils
MedGen UID:
427900
Concept ID:
CN001694
Finding
A neutrophil abnormality.
Macrocytic anemia
MedGen UID:
505031
Concept ID:
CN001784
Finding
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Lymphoma
MedGen UID:
505322
Concept ID:
CN002422
Finding
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Impaired lymphocyte transformation with phytohemagglutinin
MedGen UID:
428343
Concept ID:
CN003021
Finding
Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.
Congenital hemolytic anemia
MedGen UID:
505690
Concept ID:
CN004250
Finding
A form of hemolytic anemia with congenital onset.
Congenital hypoplastic anemia
MedGen UID:
505693
Concept ID:
CN004256
Finding
A type of hypoplastic anemia with congenital onset.
Hypogammaglobulinemia
MedGen UID:
196654
Concept ID:
C0745242
Finding
Hypocalcemia
MedGen UID:
505397
Concept ID:
CN002624
Finding
An abnormally decreased calcium concentration in the blood.
Abnormality of chromosome stability
MedGen UID:
425130
Concept ID:
CN002908
Finding
A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.
Mucopolysacchariduria
MedGen UID:
425962
Concept ID:
CN007161
Finding
Excessive amounts of mucopolysaccharide in the urine.
Respiratory insufficiency
MedGen UID:
155440
Concept ID:
C0748358
Finding
Tracheal stenosis
MedGen UID:
505350
Concept ID:
CN002513
Finding
Neutropenia
MedGen UID:
18030
Concept ID:
C0027947
Disease or Syndrome
An abnormal decrease in the number of neutrophils, a type of white blood cell.
Hypogammaglobulinemia
MedGen UID:
196654
Concept ID:
C0745242
Finding
Cellular immunodeficiency
MedGen UID:
344444
Concept ID:
C1855204
Finding
Susceptibility to chickenpox
MedGen UID:
381583
Concept ID:
C1855205
Finding
Lymphopenia
MedGen UID:
409568
Concept ID:
C1963164
Finding
Abnormality of neutrophils
MedGen UID:
427900
Concept ID:
CN001694
Finding
A neutrophil abnormality.
Impaired lymphocyte transformation with phytohemagglutinin
MedGen UID:
428343
Concept ID:
CN003021
Finding
Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Finding
Limited elbow extension
MedGen UID:
400659
Concept ID:
C1865003
Finding
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Micromelia
MedGen UID:
505428
Concept ID:
CN002699
Finding
The presence of abnormally small extremities.
Abnormality of the tibia
MedGen UID:
446462
Concept ID:
CN002706
Finding
Abnormality of the tibia (shinbone).
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short palm.
Abnormality of the distal phalanx of finger
MedGen UID:
447130
Concept ID:
CN008689
Finding
Any anomaly of distal phalanx of finger.
Metaphyseal dysplasia
MedGen UID:
451633
Concept ID:
CN117151
Finding
The presence of dysplastic regions in metaphyseal bones.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Diagnosis

Sensenbrenner JA
Birth Defects Orig Artic Ser 1974;10(12):422-4. PMID: 4549299

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