MCID: NSD003
MIFTS: 24

Nasodigitoacoustic Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Nasodigitoacoustic Syndrome

MalaCards integrated aliases for Nasodigitoacoustic Syndrome:

Name: Nasodigitoacoustic Syndrome 57 76 53 59 6 73
Keipert Syndrome 57 53 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
nasodigitoacoustic syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 255980
Orphanet 59 ORPHA2662
UMLS via Orphanet 74 C1850627
ICD10 via Orphanet 34 Q87.0
MedGen 42 C1850627
UMLS 73 C1850627

Summaries for Nasodigitoacoustic Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2662Disease definitionKeipert syndrome is a rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.Visit the Orphanet disease page for more resources.

MalaCards based summary : Nasodigitoacoustic Syndrome, also known as keipert syndrome, is related to fibrous dysplasia, and has symptoms including hoarseness An important gene associated with Nasodigitoacoustic Syndrome is GPC4 (Glypican 4). Affiliated tissues include eye and heart, and related phenotypes are macrocephaly and hypertelorism

OMIM : 57 Keipert syndrome is characterized by brachydactyly, broad thumbs and halluces, hypertelorism and other minor facial dysmorphic features, and sensorineural deafness. Phenotypically related syndromes include Teunissen-Cremers syndrome (184460), Muenke syndrome (602849) and Keutel syndrome (245150) (Nik-Zainal et al., 2008). (255980)

Wikipedia : 76 Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described... more...

Related Diseases for Nasodigitoacoustic Syndrome

Diseases related to Nasodigitoacoustic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fibrous dysplasia 10.1

Symptoms & Phenotypes for Nasodigitoacoustic Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthal folds

Head And Neck Nose:
depressed nasal bridge
prominent columella

Head And Neck Face:
prominent forehead

Skeletal Hands:
broad thumbs
short fingers
large epiphyses
broad fingers
broad distal phalanges
more
Cardiovascular Heart:
pulmonary stenosis

Skin Nails Hair Nails:
small toenails

Head And Neck Mouth:
high palate
narrow palate
prominent upper lip
cupid bow upper lip

Growth Height:
short stature

Voice:
hoarse voice

Head And Neck Ears:
hearing loss, sensorineural

Skeletal Feet:
broad halluces
short toes
broad toes


Clinical features from OMIM:

255980

Human phenotypes related to Nasodigitoacoustic Syndrome:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
4 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
5 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
6 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
7 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
8 broad hallux phalanx 59 32 hallmark (90%) Very frequent (99-80%) HP:0010059
9 broad thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0011304
10 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
11 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
12 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
13 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
14 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
15 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
16 hoarse voice 59 32 frequent (33%) Frequent (79-30%) HP:0001609
17 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
18 short hallux 59 32 hallmark (90%) Very frequent (99-80%) HP:0010109
19 tented upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0010804
20 aplastic/hypoplastic toenail 59 32 frequent (33%) Frequent (79-30%) HP:0010624
21 broad distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009836
22 exaggerated cupid's bow 59 32 frequent (33%) Frequent (79-30%) HP:0002263
23 aplasia/hypoplasia of the distal phalanges of the toes 59 32 hallmark (90%) Very frequent (99-80%) HP:0010185
24 frontal bossing 32 HP:0002007
25 high palate 32 HP:0000218
26 narrow palate 32 HP:0000189
27 abnormality of the nail 32 HP:0001597
28 prominent forehead 32 HP:0011220
29 malformation of the heart and great vessels 59 Frequent (79-30%)
30 short toe 32 HP:0001831
31 pulmonic stenosis 32 HP:0001642
32 thick upper lip vermilion 32 HP:0000215
33 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
34 short phalanx of finger 32 HP:0009803
35 broad hallux 32 HP:0010055
36 enlarged epiphyses 32 HP:0010580
37 short 3rd metacarpal 32 HP:0010041
38 low hanging columella 32 HP:0009765
39 rounded epiphyses 32 HP:0006026

UMLS symptoms related to Nasodigitoacoustic Syndrome:


hoarseness

Drugs & Therapeutics for Nasodigitoacoustic Syndrome

Search Clinical Trials , NIH Clinical Center for Nasodigitoacoustic Syndrome

Genetic Tests for Nasodigitoacoustic Syndrome

Anatomical Context for Nasodigitoacoustic Syndrome

MalaCards organs/tissues related to Nasodigitoacoustic Syndrome:

41
Eye, Heart

Publications for Nasodigitoacoustic Syndrome

Articles related to Nasodigitoacoustic Syndrome:

# Title Authors Year
1
Keipert syndrome: two further cases and review of the literature. ( 18541962 )
2008
2
Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. ( 17726694 )
2007
3
Daughter and her mildly affected father with Keipert syndrome. ( 17036315 )
2006
4
Broad thumbs and halluces with deafness: a patient with Keipert syndrome. ( 12605449 )
2003
5
Additional case of Keipert syndrome and review of the literature. ( 11208408 )
2000
6
Keipert syndrome in two brothers from Turkey. ( 9001804 )
1996

Variations for Nasodigitoacoustic Syndrome

ClinVar genetic disease variations for Nasodigitoacoustic Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GPC4 NM_001448.2(GPC4): c.1516C> T (p.Gln506Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 133303022: 133303022
2 GPC4 NM_001448.2(GPC4): c.1516C> T (p.Gln506Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 132437050: 132437050
3 GPC4 NM_001448.2(GPC4): c.1486G> T (p.Glu496Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 132437080: 132437080
4 GPC4 NM_001448.2(GPC4): c.1486G> T (p.Glu496Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 133303052: 133303052
5 GPC4 NM_001448.2(GPC4): c.701dup (p.Val235Glyfs) duplication Pathogenic GRCh38 Chromosome X, 133324155: 133324155
6 GPC4 NM_001448.2(GPC4): c.701dup (p.Val235Glyfs) duplication Pathogenic GRCh37 Chromosome X, 132458183: 132458183
7 GPC4 NM_001448.2(GPC4): c.316delG (p.Asp106Metfs) deletion Pathogenic GRCh38 Chromosome X, 133339186: 133339186
8 GPC4 NM_001448.2(GPC4): c.316delG (p.Asp106Metfs) deletion Pathogenic GRCh37 Chromosome X, 132473214: 132473214

Expression for Nasodigitoacoustic Syndrome

Search GEO for disease gene expression data for Nasodigitoacoustic Syndrome.

Pathways for Nasodigitoacoustic Syndrome

GO Terms for Nasodigitoacoustic Syndrome

Sources for Nasodigitoacoustic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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