Jawad syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MICROCEPHALY WITH MENTAL RETARDATION AND DIGITAL ANOMALIES
KELLY SYNDROME
JWDS
Number of Symptoms 22
OrphanetNr: 313795
OMIM Id: 251255
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndrome with microcephaly as major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000448) Prominent nose 56 / 7739
2
 (HPO:0000278) Retrognathia 100 / 7739
3
 (HPO:0011451) Congenital microcephaly 6 / 7739
4
 (HPO:0000718) Aggressive behavior 109 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0002943) Thoracic scoliosis 12 / 7739
7
 (HPO:0004692) 4-5 toe syndactyly 6 / 7739
8
 (HPO:0001159) Syndactyly 140 / 7739
9
 (HPO:0005780) Absent fourth finger distal interphalangeal crease 1 / 7739
10
 (HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
11
 (HPO:0001822) Hallux valgus 70 / 7739
12
 (HPO:0006216) Single interphalangeal crease of fifth finger 3 / 7739
13
 (OMIM) Absence of a middle phalanx on toes 4 and 5 1 / 7739
14
 (OMIM) Single flexion crease in the fifth fingers 1 / 7739
15
 (OMIM) Brachydactyly of the fifth fingers 1 / 7739
16
 (OMIM) Fusion of the fifth middle and distal phalanges 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Limited extension of the elbows 1 / 7739
19
 (OMIM) Shortness of the fourth and fifth metacarpals 1 / 7739
20
 (OMIM) Lack of the distal interphalangeal crease in the fourth fingers 1 / 7739
21
 (OMIM) Slender fourth metatarsal 1 / 7739
22
 (OMIM) Limited supination 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kelly et al. (1993) described 2 brothers with congenital microcephaly and moderately severe mental retardation. The presence of identical and symmetrical digital anomalies suggested a distinct entity. One brother had hallux valgus with complete syndactyly of toes 4 ...
Molecular genetics OMIM In affected members of a consanguineous Pakistani family with syndromic microcephaly mapping to chromosome 18p11.22-q11.2, previously studied by Hassan et al. (2008), Qvist et al. (2011) identified homozygosity for a 2-bp deletion in the RBBP8 gene (604124.0003). The ...