Deafness - epiphyseal dysplasia - short stature

General Information (adopted from Orphanet):

Synonyms, Signs: Chitty-Hall-Baraitser syndrome
Number of Symptoms 27
OrphanetNr: 3218
OMIM Id: 601351
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
2
 (HPO:0000325) Triangular face Frequent [Orphanet] 91 / 7739
3
 (HPO:0000307) Pointed chin Frequent [Orphanet] 45 / 7739
4
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
5
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
6
 (HPO:0007678) Lacrimal duct stenosis 8 / 7739
7
 (HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
8
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
9
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
10
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
11
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
12
 (HPO:0002342) Intellectual disability, moderate 37 / 7739
13
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
14
 (HPO:0005257) Thoracic hypoplasia Frequent [Orphanet] 79 / 7739
15
 (HPO:0006499) Abnormality of femoral epiphysis 3 / 7739
16
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
17
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
18
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
19
 (HPO:0000023) Inguinal hernia 181 / 7739
20
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
21
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
22
 (HPO:0001510) Growth delay 295 / 7739
23
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
24
 (OMIM) Femoral epiphyseal dysplasia 1 / 7739
25
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
26
 (OMIM) Bilateral lacrimal duct obstruction 1 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: