Keipert syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: KEIPERT SYNDROME
Nasodigitoacoustic syndrome
Number of Symptoms 47
OrphanetNr: 2662
OMIM Id: 255980
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
Autosomal recessive inheritance
Autosomal dominant inheritance
[Omim]
Age of onset:

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

Symptom Information: Sort by abundance 

1
 (HPO:0005280) Depressed nasal bridge 381 / 7739
2
 (HPO:0011220) Prominent forehead 137 / 7739
3
 (HPO:0002263) Exaggerated cupid's bow Frequent [Orphanet] 15 / 7739
4
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
5
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
6
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
7
 (HPO:0002007) Frontal bossing 366 / 7739
8
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
9
 (HPO:0010804) Tented upper lip vermilion Frequent [Orphanet] 47 / 7739
10
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
11
 (HPO:0000189) Narrow palate 45 / 7739
12
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
13
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
14
 (HPO:0000215) Thick upper lip vermilion 17 / 7739
15
 (HPO:0000218) High palate 356 / 7739
16
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
17
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
18
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
19
 (HPO:0010580) Enlarged epiphyses 14 / 7739
20
 (HPO:0001831) Short toe 52 / 7739
21
 (HPO:0001837) Broad toe 13 / 7739
22
 (HPO:0010041) Short 3rd metacarpal 5 / 7739
23
 (HPO:0006026) Rounded epiphyses 2 / 7739
24
 (HPO:0009803) Short phalanx of finger 79 / 7739
25
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
26
 (HPO:0100759) Clubbing of fingers Very frequent [Orphanet] 40 / 7739
27
 (HPO:0011304) Broad thumb 39 / 7739
28
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
29
 (HPO:0011305) Partial absence of toe Very frequent [Orphanet] 18 / 7739
30
 (HPO:0001500) Broad finger 9 / 7739
31
 (HPO:0009836) Broad distal phalanx of finger 8 / 7739
32
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
33
 (HPO:0010109) Short hallux Very frequent [Orphanet] 27 / 7739
34
 (HPO:0010055) Broad hallux Very frequent [Orphanet] 56 / 7739
35
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
36
 (HPO:0001597) Abnormality of the nail 115 / 7739
37
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
38
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
39
 (HPO:0001642) Pulmonic stenosis 89 / 7739
40
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
41
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
42
 (HPO:0001609) Hoarse voice 34 / 7739
43
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
44
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
45
 (OMIM) Small toenails 2 / 7739
46
 (OMIM) Prominent columella 4 / 7739
47
 (OMIM) Broad halluces 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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). ...
Clinical Description OMIM Keipert et al. (1973) described 2 brothers with a syndrome of sensorineural deafness, abnormal facies (especially nose), and broad thumbs. The nasal bridge was high and broad. The upper lip was protuberant with a striking cupid's bow conformation. ...