Rhizomelic chondrodysplasia punctata type 3
- Synonyms
- Alkyldihydroxyacetonephosphate synthase deficiency; Alkylglycerone Phosphate Synthase (AGPS) deficiency
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of limbs
- Rhizomelia
Rhizomelia
- MedGen UID: 357122
- Concept ID: C1866730
- Finding: Congenital Abnormality
Abnormality of limbs
- Short femur
Short femur
- MedGen UID: 87499
- Concept ID: C0345375
- Finding: Congenital Abnormality
Abnormality of limbs
- Short humerus
Short humerus
- MedGen UID: 316907
- Concept ID: C1832117
- Finding: Congenital Abnormality
Abnormality of limbs
- Rhizomelia
- Abnormality of metabolism/homeostasis
- Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts
Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts
- MedGen UID: 1053176
- Concept ID: CN377023
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts
- Abnormality of the musculoskeletal system
- Epiphyseal stippling
Epiphyseal stippling
- MedGen UID: 349104
- Concept ID: C1859126
- Finding: Finding
Abnormality of the musculoskeletal system
- Epiphyseal stippling
- Growth abnormality
- Disproportionate short-limb short stature
Disproportionate short-limb short stature
- MedGen UID: 342370
- Concept ID: C1849937
- Finding: Finding
Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Disproportionate short-limb short stature
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