anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
Findings
No curated finding names anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.
Definition from the Mondo Disease Ontology (MONDO:0011078), read 2026-09-29. CC BY 4.0.
Features
17 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.
- Cerebellar hypoplasiaHPOHP:0001321
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- HypothyroidismHPOHP:0000821
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Low posterior hairline
Show the remaining 5
- Abnormal skull morphologyHPOHP:0000929
- Frequent (30% to 79% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Frequent (30% to 79% of cases)
- Abnormality of the genital systemHPOHP:0000078
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Frequent (30% to 79% of cases)
- TelecanthusHPOHP:0000506
- Frequent (30% to 79% of cases)
Where it sits
- A kind of