Thrombocytopenia - Robin sequence

General Information (adopted from Orphanet):

Synonyms, Signs: Braddock-Carey syndrome
Number of Symptoms 30
OrphanetNr: 3323
OMIM Id:
ICD-10:
UMLs: C2931364
MeSH: C536898
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance:
Age of onset: Neonatal
Infancy
[Orphanet]

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:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
2
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
5
 (HPO:0000162) Glossoptosis Very frequent [Orphanet] 26 / 7739
6
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
7
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
8
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
9
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
10
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
11
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
12
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
13
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
14
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
15
 (HPO:0009466) Radial deviation of finger Very frequent [Orphanet] 101 / 7739
16
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
17
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
18
 (HPO:0001545) Anteriorly placed anus Frequent [Orphanet] 55 / 7739
19
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
20
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
21
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
22
 (HPO:0002224) Woolly hair Very frequent [Orphanet] 26 / 7739
23
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
24
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
25
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
26
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
27
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
28
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
29
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
30
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: