ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 208080
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:0000293) Full cheeks 85 / 7739
2
(HPO:0000347) Micrognathia 426 / 7739
3
(HPO:0000321) Square face 4 / 7739
4
(HPO:0010864) Intellectual disability, severe 120 / 7739
5
(HPO:0006887) Intellectual disability, progressive 68 / 7739
6
(HPO:0000830) Anterior hypopituitarism 9 / 7739
7
(HPO:0000824) Growth hormone deficiency 56 / 7739
8
(HPO:0001838) Rocker bottom foot 85 / 7739
9
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
10
(HPO:0005684) Distal arthrogryposis 31 / 7739
11
(HPO:0100490) Camptodactyly of finger 212 / 7739
12
(HPO:0001761) Pes cavus 225 / 7739
13
(HPO:0001822) Hallux valgus 70 / 7739
14
(HPO:0001763) Pes planus 176 / 7739
15
(HPO:0001765) Hammertoe 63 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
(OMIM) Small tipped nose 1 / 7739
18
(OMIM) 'Boxy' shape 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Chitayat et al. (1990) described a brother and sister with distal arthrogryposis (camptodactyly of fingers and hammertoes), hypopituitarism, severe mental retardation, and facial anomalies ('boxy' head, square face, small tipped nose, chubby cheeks, and micrognathia). The brother died ...