FEINGOLD SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: FGLDS2
BRACHYDACTYLY WITH SHORT STATURE AND MICROCEPHALY
Number of Symptoms 8
OrphanetNr:
OMIM Id: 614326
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:0000252) Microcephaly 832 / 7739
2
(HPO:0001249) Intellectual disability 1089 / 7739
3
(HPO:0001156) Brachydactyly syndrome 180 / 7739
4
(HPO:0009778) Short thumb 50 / 7739
5
(HPO:0005819) Short middle phalanx of finger 28 / 7739
6
(HPO:0004322) Short stature 1232 / 7739
7
(OMIM) Cutaneous syndactyly, 2-3 and/or 4-5 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De Pontual et al. (2011) studied 2 female probands with skeletal abnormalities consistent with a diagnosis of Feingold syndrome: microcephaly, short stature, and digital abnormalities including brachydactyly, brachymesophalangy of the second and fifth fingers, hypoplastic thumbs of variable ...
Molecular genetics OMIM De Pontual et al. (2011) performed high-resolution CGH arrays in 10 probands with skeletal abnormalities consistent with a diagnosis of Feingold syndrome (see 164280) but who lacked any mutation at the MYCN gene (164840), and in 2 of ...