SC PHOCOMELIA SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: SC PSEUDOTHALIDOMIDE SYNDROME
Number of Symptoms 28
OrphanetNr:
OMIM Id: 269000
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:0000347) Micrognathia 426 / 7739
2
(HPO:0002645) Wormian bones 65 / 7739
3
(HPO:0000204) Cleft upper lip 193 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0000430) Underdeveloped nasal alae 90 / 7739
6
(HPO:0007452) Midface capillary hemangioma 4 / 7739
7
(HPO:0000592) Blue sclerae 85 / 7739
8
(HPO:0000358) Posteriorly rotated ears 163 / 7739
9
(HPO:0001250) Seizures 1245 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0003273) Hip contracture 30 / 7739
12
(HPO:0009829) Phocomelia 20 / 7739
13
(HPO:0006380) Knee flexion contracture 56 / 7739
14
(HPO:0003982) Absent ulna 7 / 7739
15
(HPO:0003974) Absent radius 26 / 7739
16
(HPO:0009466) Radial deviation of finger 101 / 7739
17
(HPO:0009778) Short thumb 50 / 7739
18
(HPO:0004322) Short stature 1232 / 7739
19
(HPO:0001511) Intrauterine growth retardation 358 / 7739
20
(HPO:0002286) Fair hair 20 / 7739
21
(HPO:0008070) Sparse hair 94 / 7739
22
(HPO:0001650) Aortic valve stenosis 49 / 7739
23
(HPO:0003616) Premature separation of centromeric heterochromatin 3 / 7739
24
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
(MedDRA:10058668) Clinodactyly 91 / 7739
26
(HPO:0030084) Clinodactyly 90 / 7739
27
(OMIM) Absent lobules 1 / 7739
28
(OMIM) Blond, silvery hair 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a family with surname beginning with S and another with surname beginning with C, Herrmann et al. (1969) described a syndrome consisting of the following features: (1) nearly symmetrical reductive malformations of the limbs, resembling phocomelia; (2) ...
Molecular genetics OMIM In one of the original families described by Herrmann et al. (1969) and in the sisters described by Parry et al. (1986), Schule et al. (2005) found compound heterozygosity for mutations in the ESCO2 gene (see 609353.0004 and ...