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Craniofacial-deafness-hand syndrome(CDHS)

MedGen UID:: 377694
•Concept ID:: C1852510
•: Disease or Syndrome

Synonyms:	CDHS; Features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss
SNOMED CT:	Craniofacial deafness hand syndrome (702362004); Sommer Young Wee Frye syndrome (702362004)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	PAX3 (2q36.1)

Monarch Initiative:	MONDO:0007395
OMIM®:	122880
Orphanet:	ORPHA1529

Definition

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder characterized by dysmorphic facial features, hand abnormalities, absent or hypoplastic nasal and wrist bones, and severe sensorineural hearing impairment (summary by Gad et al., 2008). [from OMIM]

Additional description

From MedlinePlus Genetics
Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities.

The distinctive facial features of people with craniofacial-deafness-hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. Affected individuals often have underdeveloped or absent nasal bones resulting in a small nose, thin nostrils, and a flattened mid-face with a flat nasal bridge. Individuals with this condition typically also have widely spaced eyes (ocular hypertelorism), narrowed openings of the eyes (narrowed palpebral fissures), a small upper jaw (hypoplastic maxilla), and a small mouth with pursed lips.

People with this condition also have profound hearing loss that is caused by abnormalities in the inner ear (sensorineural deafness). Hearing loss in these individuals is present from birth.

In affected individuals, a common abnormality of the muscles in the hand is a malformation in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). People with craniofacial-deafness-hand syndrome may also have permanently bent third, fourth, and fifth fingers (camptodactyly), which can limit finger movement and lead to joint deformities called contractures. Contractures in the wrist can further impair hand movements. https://medlineplus.gov/genetics/condition/craniofacial-deafness-hand-syndrome

Clinical features

From HPO

Ulnar deviation of the hand

MedGen UID:: 66031
•Concept ID:: C0241521
•: Finding

Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Hypoplasia of the maxilla

MedGen UID:: 66804
•Concept ID:: C0240310
•: Congenital Abnormality

Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.

See: Feature record | Search on this feature

Malar flattening

MedGen UID:: 347616
•Concept ID:: C1858085
•: Finding

Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

See: Feature record | Search on this feature

Downslanted palpebral fissures

MedGen UID:: 98391
•Concept ID:: C0423110
•: Finding

The palpebral fissure inclination is more than two standard deviations below the mean.

See: Feature record | Search on this feature

Telecanthus

MedGen UID:: 140836
•Concept ID:: C0423113
•: Finding

Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.

See: Feature record | Search on this feature

Narrow naris

MedGen UID:: 604875
•Concept ID:: C0426439
•: Finding

Slender, slit-like aperture of the nostril.

See: Feature record | Search on this feature

Depressed nasal bridge

MedGen UID:: 373112
•Concept ID:: C1836542
•: Finding

Posterior positioning of the nasal root in relation to the overall facial profile for age.

See: Feature record | Search on this feature

Flat face

MedGen UID:: 342829
•Concept ID:: C1853241
•: Finding

Absence of concavity or convexity of the face when viewed in profile.

See: Feature record | Search on this feature

Short nose

MedGen UID:: 343052
•Concept ID:: C1854114
•: Finding

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.

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Hypertelorism

MedGen UID:: 9373
•Concept ID:: C0020534
•: Finding

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

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Show all Hide all

Abnormality of head or neck
Abnormality of limbs
- Ulnar deviation of the hand
Abnormality of the eye
- Hypertelorism
Abnormality of the musculoskeletal system
- Hypoplasia of the maxilla
- Malar flattening
Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCraniofacial-deafness-hand syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Craniofacial-deafness-hand syndrome

Follow this link to review classifications for Craniofacial-deafness-hand syndrome in Orphanet.

Recent clinical studies

Etiology

Disentangling the complex landscape of sleep-wake disorders with data-driven phenotyping: A study of the Bernese center.

Aellen FM, Van der Meer J, Dietmann A, Schmidt M, Bassetti CLA, Tzovara A
Eur J Neurol 2024 Jan;31(1):e16026. Epub 2023 Aug 13 doi: 10.1111/ene.16026. PMID: 37531449

Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

Gad A, Laurino M, Maravilla KR, Matsushita M, Raskind WH
Am J Med Genet A 2008 Jul 15;146A(14):1880-5. doi: 10.1002/ajmg.a.32402. PMID: 18553554 Free PMC Article

Craniofacial-deafness-hand syndrome revisited.

Sommer A, Bartholomew DW
Am J Med Genet A 2003 Nov 15;123A(1):91-4. doi: 10.1002/ajmg.a.20501. PMID: 14556253

See all (3)

Diagnosis

Disentangling the complex landscape of sleep-wake disorders with data-driven phenotyping: A study of the Bernese center.

Aellen FM, Van der Meer J, Dietmann A, Schmidt M, Bassetti CLA, Tzovara A
Eur J Neurol 2024 Jan;31(1):e16026. Epub 2023 Aug 13 doi: 10.1111/ene.16026. PMID: 37531449

Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

Gad A, Laurino M, Maravilla KR, Matsushita M, Raskind WH
Am J Med Genet A 2008 Jul 15;146A(14):1880-5. doi: 10.1002/ajmg.a.32402. PMID: 18553554 Free PMC Article

See all (2)

Prognosis

Craniofacial-deafness-hand syndrome revisited.

Sommer A, Bartholomew DW
Am J Med Genet A 2003 Nov 15;123A(1):91-4. doi: 10.1002/ajmg.a.20501. PMID: 14556253

See all (1)

Clinical prediction guides

Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

Gad A, Laurino M, Maravilla KR, Matsushita M, Raskind WH
Am J Med Genet A 2008 Jul 15;146A(14):1880-5. doi: 10.1002/ajmg.a.32402. PMID: 18553554 Free PMC Article

See all (1)

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Craniofacial-deafness-hand syndrome(CDHS)

Definition

Additional description

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

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