Conductive deafness-malformed external ear syndrome

MedGen UID:: 347429
•Concept ID:: C1857341
•: Disease or Syndrome

Synonym:	Deafness, conductive, with malformed external ear
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0009083
OMIM®:	221300
Orphanet:	ORPHA3216

Definition

A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal. [from ORDO]

Clinical features

From HPO

Conductive hearing impairment

MedGen UID:: 9163
•Concept ID:: C0018777
•: Disease or Syndrome

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.

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Low-set ears

MedGen UID:: 65980
•Concept ID:: C0239234
•: Congenital Abnormality

Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.

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Abnormal pinna morphology

MedGen UID:: 167800
•Concept ID:: C0857379
•: Congenital Abnormality

An abnormality of the pinna, which is also referred to as the auricle or external ear.

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Abnormality of the middle ear ossicles

MedGen UID:: 324579
•Concept ID:: C1836678
•: Finding

An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).

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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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Hypogonadism