Acromelic frontonasal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: AFND
Toriello syndrome
Number of Symptoms 38
OrphanetNr: 1827
OMIM Id: 603671
ICD-10: Q75.8
UMLs: C0796182
MeSH: C535657
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: Acrofacial dysostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Frontonasal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
2
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
3
 (HPO:0011803) Bifid nose 12 / 7739
4
 (HPO:0000204) Cleft upper lip 193 / 7739
5
 (HPO:0010559) Vertical clivus rare [HPO:skoehler] 3 / 7739
6
 (HPO:0002690) Large sella turcica 12 / 7739
7
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
8
 (HPO:0009928) Thick nasal alae Very frequent [Orphanet] 21 / 7739
9
 (HPO:0000455) Broad nasal tip 67 / 7739
10
 (HPO:0000248) Brachycephaly 222 / 7739
11
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
12
 (HPO:0000506) Telecanthus 156 / 7739
13
 (HPO:0010806) U-Shaped upper lip vermilion rare [HPO:skoehler] 18 / 7739
14
 (HPO:0000175) Cleft palate 349 / 7739
15
 (HPO:0002084) Encephalocele Very frequent [Orphanet] 70 / 7739
16
 (HPO:0000508) Ptosis rare [HPO:skoehler] 459 / 7739
17
 (HPO:0000501) Glaucoma rare [HPO:skoehler] 180 / 7739
18
 (HPO:0000545) Myopia rare [HPO:skoehler] 286 / 7739
19
 (HPO:0001249) Intellectual disability 1089 / 7739
20
 (HPO:0001250) Seizures 1245 / 7739
21
 (HPO:0001762) Talipes equinovarus 309 / 7739
22
 (HPO:0002435) Meningocele Very frequent [Orphanet] 23 / 7739
23
 (HPO:0001159) Syndactyly 140 / 7739
24
 (HPO:0100258) Preaxial polydactyly 39 / 7739
25
 (HPO:0001805) Thick nail 96 / 7739
26
 (HPO:0002119) Ventriculomegaly 253 / 7739
27
 (OMIM) Nostril notching 1 / 7739
28
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
29
 (OMIM) Preaxial polysyndactyly 2 / 7739
30
 (OMIM) Clubbed, thickened nails of halluces (1 patient) 1 / 7739
31
 (HPO:0002190) Choroid plexus cyst 5 / 7739
32
 (OMIM) Vertical creases of plantar surface between first and second toes 1 / 7739
33
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
34
 (OMIM) Cranium bifidum, anterior 1 / 7739
35
 (HPO:0006951) Retrocerebellar cyst 6 / 7739
36
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
37
 (HPO:0040075) Hypopituitarism rare [HPO:skoehler] 32 / 7739
38
 (OMIM) Tibial hypoplasia 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Verloes et al. (1992) described a rare variant of frontonasal dysplasia (FND; 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes ...
Clinical Description OMIM A dominant form of frontonasal dysplasia with associated spinal anomalies was suggested by Reich et al. (1977).

Prescott et al. (1989) described a subgroup of cases of median cleft face consisting of 2 new cases and ...