trigonocephaly-short stature-developmental delay syndrome
Findings
No curated finding names trigonocephaly-short stature-developmental delay syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.
Definition from the Mondo Disease Ontology (MONDO:0010749), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
23 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.
- TrigonocephalyHPOHP:0000243
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Broad secondary alveolar ridgeHPOHP:0000216
- Frequent (30% to 79% of cases)
- Convex nasal ridgeHPOHP:0000444
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
Show the remaining 11
- Multiple suture craniosynostosisHPOHP:0011324
- Frequent (30% to 79% of cases)
- Narrow foreheadHPOHP:0000341
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
- Postnatal growth retardationHPOHP:0008897
- Frequent (30% to 79% of cases)
- Premature posterior fontanelle closureHPOHP:0005494
- Frequent (30% to 79% of cases)
- Secondary microcephalyHPOHP:0005484
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: trigonocephaly-short stature-developmental delay syndrome
- Also called
- Say-Meyer syndrome