X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome(DFNX7)

MedGen UID:: 1648389
•Concept ID:: C4746975
•: Disease or Syndrome

Synonym:	DEAFNESS, X-LINKED 7
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GPRASP2 (Xq22.1)

Monarch Initiative:	MONDO:0044702
OMIM®:	301018
Orphanet:	ORPHA500188

Definition

X-linked deafness-7 (DFNX7) is a congenital form of bilateral mixed or conductive hearing loss, which may be progressive. It is not associated with vestibular symptoms (Xing et al., 2017). [from OMIM]

Clinical features

From HPO

Atresia of the external auditory canal

MedGen UID:: 78613
•Concept ID:: C0266597
•: Congenital Abnormality

Absence or failure to form of the external auditory canal.

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Stenosis of the external auditory canal

MedGen UID:: 140758
•Concept ID:: C0395837
•: Finding

An abnormal narrowing of the external auditory canal.

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Posteriorly rotated ears

MedGen UID:: 96566
•Concept ID:: C0431478
•: Congenital Abnormality

A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).

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Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

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Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

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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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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.

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Wide nasal bridge

MedGen UID:: 341441
•Concept ID:: C1849367
•: Finding

Increased breadth of the nasal bridge (and with it, the nasal root).

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Thick eyebrow

MedGen UID:: 377914
•Concept ID:: C1853487
•: Finding

Increased density/number and/or increased diameter of eyebrow hairs.

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Ptosis

MedGen UID:: 2287
•Concept ID:: C0005745
•: Disease or Syndrome

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

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Unilateral microphthalmos