short stature-craniofacial anomalies-genital hypoplasia syndrome
Findings
No curated finding names short stature-craniofacial anomalies-genital hypoplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.
Definition from the Mondo Disease Ontology (MONDO:0008335), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
32 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.
- Malar flatteningHPOHP:0000272
- 3 of 3 reported patients
- MicroretrognathiaHPOHP:0000308
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Prominent foreheadHPOHP:0011220
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- TrigonocephalyHPOHP:0000243
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: short stature-craniofacial anomalies-genital hypoplasia syndrome
- Also called
- Haspeslagh-Fryns-Muelenaere syndrome