Skeletal dysplasia - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: MRSD
CHRS
christian syndrome
Number of Symptoms 18
OrphanetNr: 1436
OMIM Id: 309620
ICD-10: Q87.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Spondylodysplastic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000431) Wide nasal bridge 290 / 7739
2
 (HPO:0005487) Prominent metopic ridge 28 / 7739
3
 (HPO:0011349) Abducens palsy 7 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0006897) Cranial nerve VI palsy 2 / 7739
6
 (HPO:0005978) Type II diabetes mellitus Frequent [Orphanet] 68 / 7739
7
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
8
 (HPO:0005107) Abnormality of the sacrum Very frequent [Orphanet] 18 / 7739
9
 (HPO:0008467) Thoracic hemivertebrae 3 / 7739
10
 (HPO:0005819) Short middle phalanx of finger 28 / 7739
11
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
12
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
13
 (HPO:0002949) Fused cervical vertebrae 13 / 7739
14
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
15
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
16
 (HPO:0000833) Glucose intolerance 20 / 7739
17
 (HPO:0001417) X-linked inheritance 173 / 7739
18
 (MedDRA:10056659) Sacral hypoplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: