Overgrowth - macrocephaly - facial dysmorphism

General Information (adopted from Orphanet):

Synonyms, Signs: MMFD
RNF135-related overgrowth syndrome
Number of Symptoms 8
OrphanetNr: 137634
OMIM Id: 614192
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 families [Orphanet]
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
2
(HPO:0001999) Abnormal facial shape 169 / 7739
3
(HPO:0000256) Macrocephaly 298 / 7739
4
(HPO:0000455) Broad nasal tip 67 / 7739
5
(HPO:0000343) Long philtrum 262 / 7739
6
(HPO:0000219) Thin upper lip vermilion 112 / 7739
7
(HPO:0000337) Broad forehead 116 / 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 Douglas et al. (2007) identified 4 individuals with an overgrowth syndrome characterized by increased postnatal height and weight, macrocephaly, variable learning disability, and dysmorphic facial features. Although none had clinical features of neurofibromatosis I (162200), the facial features ...
Molecular genetics OMIM Douglas et al. (2007) identified heterozygous mutations in the RNF135 gene (611358.0001-611358.0004) in 4 of 245 unrelated individuals with an overgrowth syndrome. One additional individual had a microdeletion including RNF135 and 4 other genes, but not NF1 (613113). ...