DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES

General Information (adopted from Orphanet):

Synonyms, Signs: MOORE-FEDERMAN SYNDROME
Number of Symptoms 14
OrphanetNr:
OMIM Id: 127200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000540) Hypermetropia 99 / 7739
2
(HPO:0000518) Cataract 454 / 7739
3
(HPO:0000541) Retinal detachment 87 / 7739
4
(HPO:0000501) Glaucoma 180 / 7739
5
(HPO:0001387) Joint stiffness 322 / 7739
6
(HPO:0009803) Short phalanx of finger 79 / 7739
7
(HPO:0006385) Short lower limbs 8 / 7739
8
(HPO:0001216) Delayed ossification of carpal bones 30 / 7739
9
(HPO:0003510) Severe short stature 90 / 7739
10
(HPO:0008873) Disproportionate short-limb short stature 39 / 7739
11
(HPO:0001072) Thickened skin 87 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Disproportionate dwarfism 2 / 7739
14
(OMIM) Thickened forearm skin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The features are dwarfism with disproportionately short legs (height 54 to 57 inches), reduced joint mobility, and ocular abnormalities (hyperopia, glaucoma, cataract, retinal detachment) (Moore and Federman, 1965). Seven members of 3 generations were affected in the 1 ...