Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: FND3
ALX1-related frontonasal dysplasia
Number of Symptoms 14
OrphanetNr: 306542
OMIM Id: 613456
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Frontonasal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000653) Sparse eyelashes 58 / 7739
2
 (HPO:0002057) Prominent glabella 8 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0002006) Facial cleft 25 / 7739
5
 (HPO:0000568) Microphthalmia 183 / 7739
6
 (HPO:0002223) Absent eyebrow 21 / 7739
7
 (HPO:0000175) Cleft palate 349 / 7739
8
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
9
 (HPO:0000431) Wide nasal bridge 290 / 7739
10
 (HPO:0000636) Upper eyelid coloboma 7 / 7739
11
 (HPO:0000248) Brachycephaly 222 / 7739
12
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Uz et al. (2010) described 3 Turkish sibs, born of consanguineous parents, with severe facial clefting and extreme microphthalmia. The male proband was born with hypertelorism, bilateral extreme microphthalmia, upper eyelid colobomata, sparse eyelashes, absence of eyebrows, wide ...
Molecular genetics OMIM In 3 affected sibs from a consanguineous Turkish family with severe frontonasal dysplasia mapping to chromosome 12q21.3, Uz et al. (2010) detected a mendelian segregation error within a region of homozygosity; analysis of SNP array data revealed a ...