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Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.
Features include always present findings: Aplasia/hypoplasia of the extremities; and very common findings: Short foot, Finger aplasia, Foot oligodactyly, and Fibular aplasia and others. 73 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 10 | Femoral bowing, Aplasia/Hypoplasia of the pubic bone, Aplasia/Hypoplasia of metatarsal bones |
Arms and legs | 7 | Aplasia/hypoplasia of the extremities, Short foot, Split hand |
Head and neck | 5 | Narrow palate, High palate, Long face |
Pregnancy and birth | 2 | Congenital pseudoarthrosis of the clavicle, Hydrops fetalis |
Growth and development | 2 | Disproportionate short stature, Intrauterine growth retardation |
Muscles | 1 | Elbow flexion contracture |
Skin | 1 | Nail dysplasia |
WNT7A function has not been fully characterized.
Phocomelia, Schinzel type is associated with mutations in the WNT7A gene on chromosome 3.
Genetic testing for WNT7A is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for phocomelia, Schinzel type has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 15 very common features, 25 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for phocomelia, Schinzel type.
2 publications have been identified in PubMed for phocomelia, Schinzel type. Research spans Diagnostic / Biomarker (50%) and Review / Meta-Analysis (50%).
Leduc F (2025). [PMID: 40673520](https://pubmed.ncbi.nlm.nih.gov/40673520/). *Clin Genet*. [Review / Meta-Analysis]
Obstetrics And Gynecology Ultrasound Group Ultrasound Branch Of Chinese Medical Association (2025). [PMID: 40947403](https://pubmed.ncbi.nlm.nih.gov/40947403/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Diagnostic / Biomarker]
Data assembled from 6 of 12 sources · Last updated Sep 17, 2026, 7:13 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center