Hypertelorism - hypospadias - polysyndactyly syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: AFFND2
HYPERTELORISM, HYPOSPADIAS, AND POLYSYNDACTYLY SYNDROME
ACROFRONTOFACIONASAL DYSOSTOSIS WITH GENITOURINARY ANOMALIES
AFFN DYSOSTOSIS 2
Acro-fronto-facio-nasal dysostosis type 2
Acro-fronto-facio-nasal syndrome type 2
naguib-richieri-costa syndrome
Number of Symptoms 49
OrphanetNr: 2211
OMIM Id: 239710
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
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
 (HPO:0000049) Shawl scrotum Very frequent [Orphanet] 31 / 7739
2
 (HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
3
 (HPO:0000048) Bifid scrotum Frequent [Orphanet] 36 / 7739
4
 (HPO:0000625) Cleft eyelid Frequent [Orphanet] 31 / 7739
5
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
6
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
7
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
8
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
9
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
10
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
11
 (HPO:0005989) Redundant neck skin 40 / 7739
12
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
13
 (HPO:0000349) Widow's peak 26 / 7739
14
 (HPO:0000260) Wide anterior fontanel 55 / 7739
15
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
16
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
17
 (HPO:0000252) Microcephaly 832 / 7739
18
 (HPO:0000474) Thickened nuchal skin fold 10 / 7739
19
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
20
 (HPO:0000218) High palate 356 / 7739
21
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
22
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
23
 (HPO:0000369) Low-set ears 372 / 7739
24
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
25
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
26
 (HPO:0000396) Overfolded helix 21 / 7739
27
 (HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
28
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
29
 (HPO:0011304) Broad thumb 39 / 7739
30
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
31
 (HPO:0000960) Sacral dimple 29 / 7739
32
 (HPO:0001770) Toe syndactyly 149 / 7739
33
 (HPO:0009700) Finger symphalangism 55 / 7739
34
 (HPO:0001159) Syndactyly 140 / 7739
35
 (HPO:0010442) Polydactyly 69 / 7739
36
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
37
 (HPO:0001177) Preaxial hand polydactyly Frequent [Orphanet] 59 / 7739
38
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
39
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
40
 (HPO:0001161) Hand polydactyly 71 / 7739
41
 (HPO:0004322) Short stature 1232 / 7739
42
 (HPO:0008388) Abnormality of the toenails Occasional [Orphanet] 28 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (OMIM) Hypoplastic, overfolded helices 1 / 7739
45
 (OMIM) Marked hypertelorism 1 / 7739
46
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
47
 (OMIM) Large philtrum 1 / 7739
48
 (OMIM) Midline groove 1 / 7739
49
 (OMIM) Microbrachycephaly 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Richieri-Costa et al. (1989) reported an apparently distinct MCA syndrome in a 6-month-old boy, born of first-cousin parents, who presented with an extraordinary picture of microbrachycephaly, wide forehead, marked hypertelorism, broad nose with midline groove with a bilateral ...