Pierre Robin syndrome - faciodigital anomaly

General Information (adopted from Orphanet):

Synonyms, Signs: Pierre Robin sequence - faciodigital anomaly
Chitayat-Meunier-Hodgkinson syndrome
Number of Symptoms 30
OrphanetNr: 2888
OMIM Id: 311895
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
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:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
2
 (HPO:0000175) Cleft palate 349 / 7739
3
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
4
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
5
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
6
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
7
 (HPO:0009891) Underdeveloped supraorbital ridges Very frequent [Orphanet] 36 / 7739
8
 (HPO:0000162) Glossoptosis Very frequent [Orphanet] 26 / 7739
9
 (HPO:0000347) Micrognathia 426 / 7739
10
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
11
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
12
 (HPO:0000201) Pierre-Robin sequence 20 / 7739
13
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
14
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
15
 (HPO:0000691) Microdontia Frequent [Orphanet] 104 / 7739
16
 (HPO:0011073) Abnormality of dental color Frequent [Orphanet] 24 / 7739
17
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
18
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
19
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
20
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
21
 (HPO:0001182) Tapered finger 93 / 7739
22
 (HPO:0001852) Sandal gap Very frequent [Orphanet] 63 / 7739
23
 (HPO:0005747) Easily subluxated first metacarpophalangeal joints 1 / 7739
24
 (HPO:0009623) Proximal placement of thumb Very frequent [Orphanet] 50 / 7739
25
 (HPO:0001795) Hyperconvex nail 13 / 7739
26
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
27
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
28
 (HPO:0001199) Triphalangeal thumb Very frequent [Orphanet] 56 / 7739
29
 (OMIM) Finger-shaped thumbs 1 / 7739
30
 (HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: