MCID: ACR105
MIFTS: 24

Acrofrontofacionasal Dysostosis 2

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acrofrontofacionasal Dysostosis 2

MalaCards integrated aliases for Acrofrontofacionasal Dysostosis 2:

Name: Acrofrontofacionasal Dysostosis 2 56
Naguib-Richieri-Costa Syndrome 56 52 58 71
Affn Dysostosis 2 56 52
Acrofrontofacionasal Dysostosis with Genitourinary Anomalies 56
Hypertelorism, Hypospadias, and Polysyndactyly Syndrome 56
Hypertelorism Hypospadias Polysyndactyly Syndrome 52
Hypertelorism-Hypospadias-Polysyndactyly Syndrome 58
Acrofrontofacionasal Dysostosis, Severe 52
Acrofrontofacionasal Dysostosis Type 2 58
Acrofrontofacionasal Syndrome Type 2 58
Affn Dysostosis 2; Affnd2 56
Naguib Syndrome 52
Affnd2 56

Characteristics:

Orphanet epidemiological data:

58
hypertelorism-hypospadias-polysyndactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
acrofrontofacionasal dysostosis 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Acrofrontofacionasal Dysostosis 2

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2211 Definition Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Epidemiology It has been described in three families. Clinical description Craniofacial manifestations include wide anterior fontanel, flat occiput, hypertelorism, ptosis , proptosis, broad nasal bridge and nasal tip, long philtrum and posteriorly rotated or low set ears. Hypospadias and shawl scrotum are present in all males. Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly . The affected patients have no intellectual deficit. Genetic counseling The condition seems to be hereditary, and transmitted as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Acrofrontofacionasal Dysostosis 2, also known as naguib-richieri-costa syndrome, is related to hypertelorism and hypospadias. Affiliated tissues include skin and bone, and related phenotypes are hypertelorism and low-set ears

More information from OMIM: 239710

Related Diseases for Acrofrontofacionasal Dysostosis 2

Diseases in the Acrofrontofacionasal Dysostosis family:

Acrofrontofacionasal Dysostosis 1 Acrofrontofacionasal Dysostosis 2

Diseases related to Acrofrontofacionasal Dysostosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertelorism 10.6
2 hypospadias 10.6

Symptoms & Phenotypes for Acrofrontofacionasal Dysostosis 2

Human phenotypes related to Acrofrontofacionasal Dysostosis 2:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
6 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
7 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
8 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
9 flat occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0005469
10 preaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001177
11 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
12 delayed cranial suture closure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000270
13 epispadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000039
14 shawl scrotum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000049
15 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
16 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
17 broad hallux phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0010059
18 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
19 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
20 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
21 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
22 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
23 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
24 eyelid coloboma 31 frequent (33%) HP:0000625
25 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
26 polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002126
27 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
28 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
29 abnormal toenail morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0008388
30 macrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0007227
31 exencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030769
32 high palate 31 HP:0000218
33 short stature 31 HP:0004322
34 microcephaly 31 HP:0000252
35 thickened nuchal skin fold 31 HP:0000474
36 abnormality of neuronal migration 58 Occasional (29-5%)
37 overfolded helix 31 HP:0000396
38 cleft eyelid 58 Frequent (79-30%)
39 hand polydactyly 31 HP:0001161
40 wide nose 31 HP:0000445
41 wide anterior fontanel 31 HP:0000260
42 abnormality of the penis 58 Very frequent (99-80%)
43 lissencephaly 58 Occasional (29-5%)
44 abnormal cortical gyration 58 Occasional (29-5%)
45 syndactyly 31 HP:0001159
46 widow's peak 31 HP:0000349
47 redundant neck skin 31 HP:0005989
48 broad hallux 31 HP:0010055

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
posteriorly rotated ears
hypoplastic, overfolded helices

Growth Height:
short stature

Skin Nails Hair Skin:
sacral dimple

Head And Neck Head:
wide anterior fontanel
microbrachycephaly

Skeletal Feet:
broad hallux

Head And Neck Nose:
broad nose
midline groove

Head And Neck Neck:
redundant nuchal skin

Head And Neck Eyes:
ptosis
proptosis
downslanting palpebral fissures
marked hypertelorism

Skeletal Hands:
broad thumb
polydactyly
syndactyly (fingers 3-4)

Genitourinary External Genitalia Male:
hypospadias
bifid scrotum
shawl scrotum

Skin Nails Hair Hair:
widow's peak

Head And Neck Mouth:
high-arched palate

Head And Neck Face:
wide forehead
large philtrum

Clinical features from OMIM:

239710

Drugs & Therapeutics for Acrofrontofacionasal Dysostosis 2

Search Clinical Trials , NIH Clinical Center for Acrofrontofacionasal Dysostosis 2

Genetic Tests for Acrofrontofacionasal Dysostosis 2

Anatomical Context for Acrofrontofacionasal Dysostosis 2

MalaCards organs/tissues related to Acrofrontofacionasal Dysostosis 2:

40
Skin, Bone

Publications for Acrofrontofacionasal Dysostosis 2

Articles related to Acrofrontofacionasal Dysostosis 2:

# Title Authors PMID Year
1
Naguib-Richieri-Costa syndrome: hypertelorism, hypospadias, and polysyndactyly syndrome. 61 56
1325738 1992
2
Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. 56
18553510 2008
3
Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies. 56
2750779 1989
4
Hypertelorism, proptosis, ptosis, polysyndactyly, hypospadias and normal height in 3 sibs: a new syndrome? 56
2830788 1988
5
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. 56
2986457 1985
6
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? 61
10327243 1999

Variations for Acrofrontofacionasal Dysostosis 2

Expression for Acrofrontofacionasal Dysostosis 2

Search GEO for disease gene expression data for Acrofrontofacionasal Dysostosis 2.

Pathways for Acrofrontofacionasal Dysostosis 2

GO Terms for Acrofrontofacionasal Dysostosis 2

Sources for Acrofrontofacionasal Dysostosis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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