Cleft palate-large ears-small head syndrome
Synonyms: Say-Barber-Hobbs syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
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, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleft palate-large ears-small head syndrome | Say-Barber-Hobbs syndrome |
| fr | Syndrome de fente palatine-grandes oreilles-petite taille | Syndrome de Say-Barber-Hobbs |
| de | Gaumenspalte-große Ohren-Kleinwuchs-Syndrom | Say-Barber-Hobbs-Syndrom |
| es | Síndrome de paladar hendido-orejas grandes-cabeza pequeña | Síndrome de Say-Barber-Hobbs |
| it | Palatoschisi - orecchie grandi - microcefalia | Sindrome di Say-Barber-Hobbs |
| nl | Gespleten gehemelte - grote oren - klein hoofd-syndroom | Syndroom van Say-Barber-Hobbs |
| pt | Síndrome de fenda palatina-pavilhões auriculres grandes-microcefalia | Síndrome Say-Barber-Hobbs |
| pl | Rozszczep podniebienia - duże uszy - mała głowa | Zespół Say, Barber i Hobbsa |
| cs | Syndrom zahrnující rozštěp patra, velké uši a malou hlavu | Sayův-Barberův-Hobbsův syndrom · Say-Barber-Hobbsův syndrom |
| uk | Синдром розщілини піднебіння-великих вух-маленької голови | Синдром Сай-Барбера-Хоббса |
| zh | 腭裂-大耳-小头畸形综合征 | Say-Barber-Hobbs 综合征 |
| tr | Damak yarığı-büyük kulaklar-küçük kafa sendromu | Say-Barber-Hobbs sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 181180 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008402 | E | validated | |
| MeSH | C536621 | E | validated | |
| UMLS | C1867023 | E | validated | |
| GARD | 162 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 10449654[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10449654[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000175 | Cleft palate | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0004428 | Elfin facies | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001263 | Global developmental delay | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0000347 | Micrognathia | |
| HP:0000767 | Pectus excavatum | |
| HP:0000411 | Protruding ear | |
| HP:0000508 | Ptosis | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0009465 | Ulnar deviation of finger | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2013
- This record as JSON: /data/d/2013.json