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Fountain syndrome

MedGen UID:
208650
Concept ID:
C0795944
Disease or Syndrome
Synonyms: MENTAL RETARDATION, SENSORINEURAL DEAFNESS, SKELETAL ABNORMALITIES, AND COARSE FACE WITH FULL LIPS; Mental retardation-deafnes, skeletal abnormalities, coarse face with full lips
SNOMED CT: Fountain syndrome (720957007); Deafness with skeletal dysplasia and lip granuloma syndrome (720957007); Deafness, skeletal dysplasia, coarse face with full lips syndrome (720957007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009241
OMIM®: 229120
Orphanet: ORPHA3219

Definition

An extremely rare multi-systemic genetic disorder with characteristics of intellectual disability, deafness, skeletal abnormalities and coarse facial features.The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described. The main clinical features include moderate to severe intellectual deficit, congenital sensorineural hearing impairment and broad, stubby hands and feet. A coarse face with full lips and cheeks is also found. These signs are reported to become more prominent with age. The pattern of inheritance appears to be autosomal recessive. [from SNOMEDCT_US]

Clinical features

From HPO
Broad palm
MedGen UID:
75535
Concept ID:
C0264142
Congenital Abnormality
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Broad distal phalanx of finger
MedGen UID:
342551
Concept ID:
C1850630
Finding
Abnormally wide (broad) distal phalanx of finger.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Thickened calvaria
MedGen UID:
346823
Concept ID:
C1858452
Finding
The presence of an abnormally thick calvaria.
Facial edema
MedGen UID:
154241
Concept ID:
C0542571
Pathologic Function
Swelling due to an excessive accumulation of fluid in facial tissues.
Thick lower lip vermilion
MedGen UID:
326567
Concept ID:
C1839739
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFountain syndrome
Follow this link to review classifications for Fountain syndrome in Orphanet.

Recent clinical studies

Diagnosis

Priolo M, Mancini C, Pizzi S, Chiriatti L, Radio FC, Cordeddu V, Pintomalli L, Mammì C, Dallapiccola B, Tartaglia M
Genes (Basel) 2022 May 16;13(5) doi: 10.3390/genes13050889. PMID: 35627274Free PMC Article
Van Buggenhout GJ, Van Ravenswaaij-Arts CM, Renier WO, Van de Wiel MP, Trommelen JC, Pijkels E, Hamel BC, Fryns JP
Genet Couns 1996;7(3):177-86. PMID: 8897038
Fryns JP, Dereymaeker A, Hoefnagels M, Van den Berghe H
Am J Med Genet 1987 Mar;26(3):551-5. doi: 10.1002/ajmg.1320260307. PMID: 3565469

Prognosis

Van Buggenhout GJ, Van Ravenswaaij-Arts CM, Renier WO, Van de Wiel MP, Trommelen JC, Pijkels E, Hamel BC, Fryns JP
Genet Couns 1996;7(3):177-86. PMID: 8897038

Clinical prediction guides

Fryns JP, Dereymaeker A, Hoefnagels M, Van den Berghe H
Am J Med Genet 1987 Mar;26(3):551-5. doi: 10.1002/ajmg.1320260307. PMID: 3565469

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