Fountain syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, SENSORINEURAL DEAFNESS, SKELETAL ABNORMALITIES, AND COARSE FACE WITH FULL LIPS
Deafness - skeletal dysplasia - coarse face with full lips
Deafness - skeletal dysplasia - lip granuloma
Number of Symptoms 46
OrphanetNr: 3219
OMIM Id: 229120
ICD-10: Q87.8
UMLs: C0795944
MeSH: C537270
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
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

Symptom Information: Sort by abundance 

1
 (HPO:0001031) Subcutaneous lipoma Frequent [Orphanet] 112 / 7739
2
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
3
 (HPO:0000969) Edema Very frequent [Orphanet] 117 / 7739
4
 (HPO:0000282) Facial edema 5 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
7
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
8
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
9
 (HPO:0009836) Broad distal phalanx of finger 8 / 7739
10
 (HPO:0100760) Clubbing of toes Occasional [Orphanet] 24 / 7739
11
 (HPO:0001760) Abnormality of the foot Occasional [Orphanet] 96 / 7739
12
 (HPO:0000944) Abnormality of the metaphyses Occasional [Orphanet] 141 / 7739
13
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
14
 (HPO:0001169) Broad palm 43 / 7739
15
 (HPO:0001176) Large hands Occasional [Orphanet] 43 / 7739
16
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
17
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
18
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
19
 (HPO:0002684) Thickened calvaria 32 / 7739
20
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
21
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
22
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
23
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
24
 (HPO:0000574) Thick eyebrow Occasional [Orphanet] 96 / 7739
25
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
26
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
27
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
28
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
29
 (HPO:0000159) Abnormality of the lip Frequent [Orphanet] 33 / 7739
30
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
31
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
32
 (HPO:0000168) Abnormality of the gingiva Occasional [Orphanet] 51 / 7739
33
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
34
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
35
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
36
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
37
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
38
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
39
 (HPO:0011390) Morphological abnormality of the inner ear Very frequent [Orphanet] 21 / 7739
40
 (HPO:0000965) Cutis marmorata Occasional [Orphanet] 46 / 7739
41
 (HPO:0000974) Hyperextensible skin Frequent [Orphanet] 59 / 7739
42
 (HPO:0010783) Erythema Occasional [Orphanet] 138 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (HPO:0030350) Erythematous papule Occasional [Orphanet] 123 / 7739
45
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
46
 (OMIM) Notable friendly behavior 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fountain (1974) reported 3 brothers and a sister with mental retardation, deafness, and skeletal abnormalities. Two of them developed progressive swelling of the lips and in 1 of them an eroded granulomatous mass appeared in the lower lip. ...