cleft palate-large ears-small head syndrome
Findings
No curated finding names cleft palate-large ears-small head syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.
Definition from the Mondo Disease Ontology (MONDO:0008402), read 2026-09-29. CC BY 4.0.
Features
19 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.
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- MacrotiaHPOHP:0000400
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the nipplesHPOHP:0006709
- Frequent (30% to 79% of cases)
- Elfin facies
Show the remaining 7
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Pectus excavatumHPOHP:0000767
- Frequent (30% to 79% of cases)
- Protruding earHPOHP:0000411
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- Frequent (30% to 79% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: cleft palate-large ears-small head syndrome
- Also called
- Say-Barber-Hobbs syndrome