Cleft palate - large ears - small head

General Information (adopted from Orphanet):

Synonyms, Signs: CLEFT PALATE, MICROCEPHALY, LARGE EARS, AND SHORT STATURE
Say-Barber-Hobbs syndrome
Number of Symptoms 33
OrphanetNr: 2013
OMIM Id: 181180
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
2
 (HPO:0002049) Proximal renal tubular acidosis 8 / 7739
3
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
6
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
7
 (HPO:0004428) Elfin facies Frequent [Orphanet] 5 / 7739
8
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
9
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
10
 (HPO:0000175) Cleft palate 349 / 7739
11
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
12
 (HPO:0000400) Macrotia 108 / 7739
13
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
14
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Frequent [Orphanet] 28 / 7739
15
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
16
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
17
 (HPO:0001155) Abnormality of the hand 54 / 7739
18
 (HPO:0001182) Tapered finger 93 / 7739
19
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
20
 (HPO:0009463) Ulnar deviation of the 3rd finger 3 / 7739
21
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
22
 (HPO:0001238) Slender finger Frequent [Orphanet] 23 / 7739
23
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
24
 (HPO:0200040) Epidermoid cyst Frequent [Orphanet] 35 / 7739
25
 (HPO:0000951) Abnormality of the skin 147 / 7739
26
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
27
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
28
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
29
 (OMIM) Low set thumbs 2 / 7739
30
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
31
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
32
 (OMIM) Acromial dimples 3 / 7739
33
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: