Frontonasal dysplasia with alopecia and genital anomaly

General Information (adopted from Orphanet):

Synonyms, Signs: FND2
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia with alopecia and genital abnomality
ALX4-related FNDAG
Number of Symptoms 43
OrphanetNr: 228390
OMIM Id: 613451
ICD-10: Q87.0
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: Alopecia
 -Rare genetic disease
 -Rare skin disease
Frontonasal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
2
 (HPO:0000046) Scrotal hypoplasia Frequent [Orphanet] 54 / 7739
3
 (HPO:0000653) Sparse eyelashes 58 / 7739
4
 (HPO:0000457) Depressed nasal ridge 85 / 7739
5
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
6
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
7
 (HPO:0001362) Calvarial skull defect Very frequent [Orphanet] 22 / 7739
8
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
9
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
10
 (HPO:0002697) Parietal foramina 12 / 7739
11
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
12
 (HPO:0009924) Aplasia/Hypoplasia involving the nose Very frequent [Orphanet] 18 / 7739
13
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
14
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
15
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
16
 (HPO:0001363) Craniosynostosis 132 / 7739
17
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
18
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
19
 (HPO:0002084) Encephalocele Very frequent [Orphanet] 70 / 7739
20
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
21
 (HPO:0000456) Bifid nasal tip 11 / 7739
22
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
23
 (HPO:0000252) Microcephaly 832 / 7739
24
 (HPO:0000431) Wide nasal bridge 290 / 7739
25
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
26
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
27
 (HPO:0000633) Decreased lacrimation rare [HPO:skoehler] 6 / 7739
28
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
29
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
30
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
31
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
32
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
33
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
34
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
35
 (HPO:0001596) Alopecia Very frequent [Orphanet] rare [HPO:skoehler] 162 / 7739
36
 (HPO:0002213) Fine hair Frequent [Orphanet] 77 / 7739
37
 (HPO:0000966) Hypohidrosis rare [HPO:skoehler] 41 / 7739
38
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
39
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
40
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
41
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
42
 (HPO:0012745) Short palpebral fissure 47 / 7739
43
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kayserili et al. (2009) described 2 consanguineous Turkish families with an autosomal recessive form of frontonasal dysplasia characterized by a large skull defect, coronal craniosynostosis, hypertelorism, severely depressed nasal bridge and ridge, bifid nasal tip, cryptorchidism, agenesis of ...
Molecular genetics OMIM In affected members of 2 consanguineous Turkish families segregating frontonasal dysplasia, Kayserili et al. (2009) identified homozygosity for a 793C-T nonsense mutation in the Aristaless-like-4 gene (605420.0008). The mutation was predicted to result in a premature stop codon ...