Deafness-epiphyseal dysplasia-short stature syndrome
Synonyms: Chitty-Hall-Baraitser syndrome · Hearing loss-epiphyseal dysplasia-short stature syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-epiphyseal dysplasia-short stature syndrome | Chitty-Hall-Baraitser syndrome · Hearing loss-epiphyseal dysplasia-short stature syndrome |
| fr | Syndrome de surdité-dysplasie épiphysaire-petite taille | Syndrome de Chitty-Hall-Baraitser |
| de | Schwerhörigkeit-epiphysäre Dysplasie-Kleinwuchs-Syndrom | Chitty-Hall-Baraitser-Syndrom |
| es | Síndrome de sordera-displasia epifisaria-talla baja | Síndrome de Chitty-Hall-Baraitser · Síndrome de hipoacusia-displasia epifisaria-talla baja |
| it | Sindrome sordità-displasia epifisaria-bassa statura | Sindrome di Chitty-Hall-Baraitser |
| nl | Doofheid - epifysaire dysplasie - kleine gestalte-syndroom | Gehoorverlies - epifysaire dysplasie - kleine gestalte-syndroom · Syndroom van Chitty-Hall-Baraitser |
| pt | Síndrome de surdez-displasia epifisária-baixa estatura | Síndrome de perda auditiva-displasia epifisária-baixa estatura |
| pl | Głuchota - dysplazja nasadowa - niski wzrost | Zespół Chitty, Halla i Baraitsera |
| cs | Syndrom zahrnující hluchotu, epifyzární dysplázii a malý vzrůst | Chittyho-Hallův-Baraitserův syndrom · Chitty-Hall-Baraitserův syndrom |
| uk | Синдром глухоти-епіфізарної дисплазії-низькорослості | Синдром Чітті-Холла-Барайзера · Синдром втрати слуху - епіфізарної дисплазії - низького зросту |
| zh | 耳聋-骨骺发育异常-矮小综合征 | 听力丧失-骨骺发育不良-身材矮小综合征 |
| tr | Sağırlık-epifiz displazisi-kısa boy sendromu | Chitty-Hall-Baraitser sendromu · İşitme kaybı-epifiz displazisi-kısa boy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601351 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0011047 | E | validated | |
| MeSH | C535928 | E | validated | |
| UMLS | C1832438 | E | validated | |
| GARD | 1688 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological 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 | 2 cases | Worldwide | Case(s) | Validated | 8867655[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8867655[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:0006499 | Abnormality of femoral epiphysis | |
| HP:0000365 | Hearing impairment | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001263 | Global developmental delay | |
| HP:0003307 | Hyperlordosis | |
| HP:0000023 | Inguinal hernia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000545 | Myopia | |
| HP:0000579 | Nasolacrimal duct obstruction | |
| HP:0000307 | Pointed chin | |
| HP:0000470 | Short neck | |
| HP:0010306 | Short thorax | |
| HP:0000325 | Triangular face | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001156 | Brachydactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0000541 | Retinal detachment | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3218
- This record as JSON: /data/d/3218.json