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Achondrogenesis |
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Synonyms |
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Achondrogenesis, Grebe type |
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Clinical |
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Severe dysostosis limited to the limbs with increasing shortening from
proximal to distal segments, rudimentary fingers and toes, frequent polydactyly;
legs more severely affected than arms.
Shortening of some phalanges noted in heterozygotes (Curtis). Trunk and
head are normal. Normal intellect.
Severe phenotype with absent lower limb bone reported. Report (Costa) of
heterozygotes with normal height but a variety of skeletal anomalies including
polydactyly, brachydactyly, hallux valgus and metatarsus abductus. |
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Differential diagnosis |
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Compare with other short limb dwarfism syndromes resembling Grebe chondrodysplasia.
Distinguish with Roberts syndrome by absence of cleft palate, heart defect
and mental retardation.
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Radiology |
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Polydactyly, brachydactyly; hypoplastic long bones of limbs, distal more
affected than proximal, lower limbs more seven than upper, ulane more affected
than proximal, lower limbs more severe than upper; ulane more affected than
radii. Normal skull and spine. |
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Genetics |
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Autosomal recessive
Mutation in CDMP1
Gene map locus 20q112 |
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Traits |
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Autosomal recessive
Short stature - prenatal / postnatal / intrauterine dwarfism
Short limbs - predominantly acromelic, transverse elements missing
Small hand
Brachydactyly
Irregularities of length / shape of fingers
Syndactyly of fingers
Polydactyly - preaxial (radial), postaxial (ulnar) type unspecified
Mising fingers
Clinodactyly of 5th finger
Terminal hypoplasia fingers
Talipes
Short foot (including brachydactyly)
Syndactyly (other than minimal 2nd and 3rd toes)
Absent / abnormal humerus
Absent / hypoplastic radius |
Other abnormal radius
Absent / hypoplastic ulna
Other abnormal ulna
Absent / small / hypoplastic carpals
Absent / abnormal metacarpals
Absent / abnormal / short femur
Femora short / deformed / bowed
Small / absent patella
Tibiae short / deformed / bowed
Fibulae short / deformed / bowed
Small carpal bones
All metacarpals hypoplastic / short
All metacarpals short / deformed
Misshaped hand bones
Metatarsal abnormalities
Other phalangeal abnormalities |
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