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Genetic Counseling
Introduction
 
Archives
Bartsocas-Papas Syndrome
Neu laxova
Robert's Syndrome
Meckel Gruber Syndrome
Golden har
Achondrogenesis
Lethal Pterygium syndrome
Turner's Syndrome
Morquio Syndrome
Ellis-van Creveld syndrome
Femoral hypoplasia
   
     
  Achondrogenesis  
     
 
   
 
     
  Synonyms  
  Achondrogenesis, Grebe type  
     
  Clinical  
  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.
 
     
  Differential diagnosis  
  Compare with other short limb dwarfism syndromes resembling Grebe chondrodysplasia.
Distinguish with Roberts syndrome by absence of cleft palate, heart defect and mental retardation.
 
     
  Radiology  
  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.  
     
  Genetics  
  Autosomal recessive
Mutation in CDMP1
Gene map locus 20q112
 
     
  Traits  
 
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