STEVENSON-CAREY SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 35
OrphanetNr:
OMIM Id: 611961
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000010) Recurrent urinary tract infections 56 / 7739
2
(HPO:0000430) Underdeveloped nasal alae 90 / 7739
3
(HPO:0002714) Downturned corners of mouth 98 / 7739
4
(HPO:0000568) Microphthalmia 183 / 7739
5
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
6
(HPO:0000463) Anteverted nares 305 / 7739
7
(HPO:0000248) Brachycephaly 222 / 7739
8
(HPO:0000160) Narrow mouth 188 / 7739
9
(HPO:0005274) Prominent nasal tip 6 / 7739
10
(HPO:0000201) Pierre-Robin sequence 20 / 7739
11
(HPO:0000589) Coloboma 47 / 7739
12
(HPO:0000358) Posteriorly rotated ears 163 / 7739
13
(HPO:0000369) Low-set ears 372 / 7739
14
(HPO:0001249) Intellectual disability 1089 / 7739
15
(HPO:0001250) Seizures 1245 / 7739
16
(HPO:0001263) Global developmental delay 853 / 7739
17
(HPO:0012385) Camptodactyly 113 / 7739
18
(HPO:0001385) Hip dysplasia 242 / 7739
19
(HPO:0009473) Joint contracture of the hand 84 / 7739
20
(HPO:0002650) Scoliosis 705 / 7739
21
(HPO:0001371) Flexion contracture 220 / 7739
22
(HPO:0002020) Gastroesophageal reflux 101 / 7739
23
(HPO:0002019) Constipation 194 / 7739
24
(HPO:0011670) Left superior vena cava draining to coronary sinus 1 / 7739
25
(HPO:0001631) Atria septal defect 274 / 7739
26
(HPO:0007110) Central hypoventilation 6 / 7739
27
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
28
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
(OMIM) Hypoplastic flexion creases 2 / 7739
30
(OMIM) Two vessel cord 2 / 7739
31
(HPO:0002280) Enlarged cisterna magna 12 / 7739
32
(OMIM) Second finger overlap with third finger 1 / 7739
33
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
34
(OMIM) Gastroesophageal reflux, severe 3 / 7739
35
(OMIM) Narrow ear canals 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stevenson and Carey (2007) described 2 sisters with a multiple congenital anomaly syndrome with mental retardation, Pierre-Robin sequence, and cerebellar hypoplasia. Both sisters had similar craniofacial features including coloboma, microphthalmia, downslanting palpebral fissures, anteverted nares, small mouth with ...