LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr:
OMIM Id: 601356
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:0000260) Wide anterior fontanel 55 / 7739
2
 (HPO:0000256) Macrocephaly 298 / 7739
3
 (HPO:0002645) Wormian bones 65 / 7739
4
 (HPO:0007957) Corneal opacity 84 / 7739
5
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
6
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
7
 (HPO:0003027) Mesomelia 58 / 7739
8
 (HPO:0000926) Platyspondyly 150 / 7739
9
 (HPO:0001776) Bilateral talipes equinovarus 8 / 7739
10
 (HPO:0009826) Limb undergrowth 8 / 7739
11
 (HPO:0005716) Lethal skeletal dysplasia 6 / 7739
12
 (HPO:0011910) Shortening of all phalanges of fingers 2 / 7739
13
 (HPO:0005720) Shortening of all metacarpals 12 / 7739
14
 (OMIM) Severe limb shortness 1 / 7739
15
 (OMIM) Multiple wormian bones 2 / 7739
16
 (OMIM) Occipital synchondrosis 1 / 7739
17
 (OMIM) Large head Wide anterior fontanel 1 / 7739
18
 (OMIM) Shortening of all phalanges and metacarpals 1 / 7739
19
 (OMIM) Sclerotic bones 1 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM - Exclusion Studies

Using DNA from 2 unrelated female infants with al Gazali-type lethal skeletal dysplasia, of Swedish and Japanese origin, respectively, Grigelioniene et al. (2011) performed comparative genomic hybridization analysis but found no gene dosage ...