phocomelia, Schinzel type
Findings
No curated finding names phocomelia, Schinzel type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010164), read 2026-09-29. CC BY 4.0.
Features
54 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia/hypoplasia of the extremitiesHPOHP:0009815
- Obligate (100% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Very frequent (80% to 99% of cases)
- Anteriorly displaced genitaliaHPOHP:0003252
- 4 of 5 reported patients
- Aplasia of the ulnaHPOHP:0003982
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia involving the pelvisHPOHP:0009103
- Very frequent (80% to 99% of cases)
- Aplasia/hypoplasia of the femurHPOHP:0005613
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the sacrumHPOHP:0008517
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Disproportionate short statureHPOHP:0003498
- Very frequent (80% to 99% of cases)
- EctrodactylyHPOHP:0100257
- Very frequent (80% to 99% of cases)
- Fibular aplasiaHPOHP:0002990
- Very frequent (80% to 99% of cases)
- Finger aplasiaHPOHP:0009380
- Very frequent (80% to 99% of cases)
Show the remaining 42
- Foot oligodactylyHPOHP:0001849
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Nail dysplasiaHPOHP:0002164
- Very frequent (80% to 99% of cases)
- Short footHPOHP:0001773
- Very frequent (80% to 99% of cases)
- Barrel-shaped chestHPOHP:0001552
- 2 of 3 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WNT7AHGNC:12786
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: phocomelia, Schinzel type
- Also called
- Al Awadi-Raas-Rothschild syndromeaplasia/hypoplasia of limbs and pelviscongenital absence of ulna and fibulasevere limb deficit