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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).
Autosomal recessive inheritance (Orphanet)
 
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.
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Short palm
MedGen UID:
334684
•Concept ID:
C1843108
•
Finding
Short palm.
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Broad distal phalanx of finger
MedGen UID:
342551
•Concept ID:
C1850630
•
Finding
Abnormally wide (broad) distal phalanx of finger.
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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).
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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.
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Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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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.
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Thickened calvaria
MedGen UID:
346823
•Concept ID:
C1858452
•
Finding
The presence of an abnormally thick calvaria.
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Facial edema
MedGen UID:
154241
•Concept ID:
C0542571
•
Pathologic Function
Swelling due to an excessive accumulation of fluid in facial tissues.
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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).
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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.
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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

DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
van der Laan L, Karimi K, Rooney K, Lauffer P, McConkey H, Caro P, Relator R, Levy MA, Bhai P, Mignot C, Keren B, Briuglia S, Sobering AK, Li D, Vissers LELM, Dingemans AJM, Valenzuela I, Verberne EA, Misra-Isrie M, Zwijnenburg PJG, Waisfisz Q, Alders M, Sailer S, Schaaf CP, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P
Genet Med 2024 Mar;26(3):101050. Epub 2023 Dec 18 doi: 10.1016/j.gim.2023.101050. PMID: 38126281
Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.
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
Fountain syndrome: further delineation of the clinical syndrome and follow-up data.
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
Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome.
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

Fountain syndrome: further delineation of the clinical syndrome and follow-up data.
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

Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.
Wimmer MC, Brennenstuhl H, Hirsch S, Dötsch L, Unser S, Caro P, Schaaf CP
Clin Genet 2024 May;105(5):499-509. Epub 2024 Jan 14 doi: 10.1111/cge.14480. PMID: 38221796
Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome.
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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