Thoracic dysplasia-hydrocephalus syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr: 1861
OMIM Id: 273730
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Thoracic malformation
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
2
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
3
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
6
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
7
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
8
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
9
 (HPO:0000773) Short ribs 70 / 7739
10
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
11
 (HPO:0006644) Thoracic dysplasia 12 / 7739
12
 (HPO:0009826) Limb undergrowth 8 / 7739
13
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
14
 (HPO:0002878) Respiratory failure 57 / 7739
15
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
16
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
17
 (HPO:0001334) Communicating hydrocephalus Very frequent [Orphanet] 32 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) Mild limb shortening 1 / 7739
20
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: