Deafness - genital anomalies - metacarpal and metatarsal synostosis

General Information (adopted from Orphanet):

Synonyms, Signs: Pfeiffer-Kapferer syndrome
Number of Symptoms 27
OrphanetNr: 3224
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance:
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
(HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
2
(HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
3
(HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
4
(HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
5
(HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
6
(HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
7
(HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
8
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
9
(HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
10
(HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
11
(HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
12
(HPO:0002558) Supernumerary nipple Frequent [Orphanet] 40 / 7739
13
(HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
14
(HPO:0010109) Short hallux Frequent [Orphanet] 27 / 7739
15
(HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
16
(HPO:0001761) Pes cavus Very frequent [Orphanet] 225 / 7739
17
(HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
18
(HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
19
(HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
20
(HPO:0001956) Truncal obesity Frequent [Orphanet] 39 / 7739
21
(HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
22
(HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
23
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
24
(HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
25
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
26
(HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
27
(HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: