SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 30
OrphanetNr:
OMIM Id: 612447
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:0000054) Micropenis 257 / 7739
2
(HPO:0000028) Cryptorchidism 347 / 7739
3
(HPO:0000233) Thin vermilion border 124 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0000160) Narrow mouth 188 / 7739
6
(HPO:0000486) Strabismus 576 / 7739
7
(HPO:0001249) Intellectual disability 1089 / 7739
8
(HPO:0005736) Short tibia 19 / 7739
9
(HPO:0005815) Supernumerary ribs 9 / 7739
10
(HPO:0002750) Delayed skeletal maturation 250 / 7739
11
(HPO:0009777) Absent thumb 31 / 7739
12
(HPO:0003022) Hypoplasia of the ulna 40 / 7739
13
(HPO:0003097) Short femur 13 / 7739
14
(HPO:0006501) Aplasia/Hypoplasia of the radius 2 / 7739
15
(HPO:0003038) Fibular hypoplasia 30 / 7739
16
(HPO:0004322) Short stature 1232 / 7739
17
(OMIM) Hyperelastic knee joints 1 / 7739
18
(OMIM) 13 ribs 1 / 7739
19
(OMIM) Absent thumbs, bilaterally 1 / 7739
20
(OMIM) Bifid hallux, unilateral 1 / 7739
21
(OMIM) Shortened femurs 2 / 7739
22
(OMIM) Dysmorphic face 1 / 7739
23
(OMIM) Shortened tibia 2 / 7739
24
(OMIM) Fibula shortening 3 / 7739
25
(OMIM) Hypoplastic right scapula 1 / 7739
26
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
(OMIM) Protruding right ear 1 / 7739
28
(OMIM) Hypoplastic right clavicle 1 / 7739
29
(OMIM) Shortened humeri 1 / 7739
30
(OMIM) Hypoplastic patella, unilateral 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wieczorek et al. (2002) described a 5-year-old boy who had bilateral absence of thumbs, right-sided aplasia and left-sided hypoplasia of the radius, bilateral ulnar hypoplasia, bifid right hallux, short stature, microcephaly, cryptorchidism, micropenis, and mental retardation. Additional findings ...
Molecular genetics OMIM In a 12.75-year-old boy with skeletal defects, genital hypoplasia, and mental retardation, originally reported by Wieczorek et al. (2002), Fischer et al. (2008) performed array-based CGH and identified an approximately 8-Mb de novo deletion on the paternal chromosome ...