Growth deficiency - brachydactyly - dysmorphism

General Information (adopted from Orphanet):

Synonyms, Signs: GROWTH DEFICIENCY, FACIAL ANOMALIES, AND BRACHYDACTYLY
Frias syndrome
Number of Symptoms 9
OrphanetNr: 2055
OMIM Id: 609640
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: autosomal dominant
Autosomal dominant inheritance
[Omim]
Age of onset: Childhood
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000347) Micrognathia 426 / 7739
2
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
3
(HPO:0000520) Proptosis 192 / 7739
4
(HPO:0000316) Hypertelorism 644 / 7739
5
(HPO:0000508) Ptosis 459 / 7739
6
(HPO:0000378) Cupped ear 34 / 7739
7
(HPO:0000358) Posteriorly rotated ears 163 / 7739
8
(HPO:0001263) Global developmental delay 853 / 7739
9
(HPO:0004322) Short stature 1232 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Frias et al. (1975) reported a 6-year-old boy with a peculiar facies, characterized by downslanting palpebral fissures, epicanthic folds, hypertelorism, and ptosis. He was noted to have slightly slower psychomotor development than his unaffected sister and was reported ...