Mengel-Konigsmark-Berlin-McKusick syndrome

Classification according to ICD-10
H90.5	Hearing loss due to sensorineural hearing disorder, unspecified - Congenital hearing loss or deafness onA
ICD-10 online (WHO version 2019)

The Mengel-Konigsmark-Berlin-McKusick syndrome is a very rare congenital disease with the main features of deafness or conductive hearing loss combined with malformations of the ear cups .

Synonyms are: Mengel-Konigsmark syndrome; Deafness auricular dysplasia syndrome

The name refers to the first authors of the first description from 1969 by the American human geneticists Marvin C. Mengel , Victor A. McKusick and the ENT doctors Bruce W. Konigsmark (1928 - 1973) and Charles I. Berlin .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The cause is not yet known.

Clinical manifestations

Clinical criteria are:

Bilateral auricular malformation
slight facial dysmorphism , antimongoloid lid axis , hypertelorism , wide nasal saddle , high palatal vault , blepharophimosis
Mental disability
Conductive hearing loss on both sides with malformation of the auditory ossicles
Short stature
Cryptorchidism
Hypogonadism
Systolic

Differential diagnosis

The following are to be distinguished:

literature

JM Cantú, R. Ruenes, D. García-Cruz: Autosomal recessive sensorineural-conductive deafness, mental retardation, and pinna anomalies. In: Human genetics. Vol. 40, No. 2, January 1978, pp. 231-234, PMID 624552 .
BW Konigsmark: Hereditary congenital severe deafness syndromes. In: The Annals of Otology, Rhinology, and Laryngology. Vol. 80, No. 2, April 1971, pp. 269-288, doi: 10.1177 / 000348947108000216 , PMID 4927796 (review).
MC Mengel, BW Konigsmark: Two genetically distinct types of congenital recessive deafness, one Mennonite, one Amish. In: Birth defects original article series. Vol. 07, No. 4, March 1971, pp. 133-134, PMID 5173343 .

Individual evidence

↑ ^a ^b ^c ^d Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ ^a ^b Conductive hearing loss - malformations of the outer ear. In: Orphanet (Rare Disease Database).
↑ MC Mengel, BW Konigsmark, CI Berlin, VA McKusick: Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome. In: Journal of medical genetics. Vol. 6, No. 1, March 1969, pp. 14-21, PMID 5771216 , PMC 1468697 (free full text).
^ Deafness, Conductive, With Malformed External Ear. In: Online Mendelian Inheritance in Man . (English)
^ Abnormalities of the kidney, genitals and middle ear. In: Orphanet (Rare Disease Database).

Web links

Right diagnosis

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] Conductive hearing loss - malformations of the outer ear. In: Orphanet (Rare Disease Database).

[3] MC Mengel, BW Konigsmark, CI Berlin, VA McKusick: Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome. In: Journal of medical genetics. Vol. 6, No. 1, March 1969, pp. 14-21, PMID 5771216 , PMC 1468697 (free full text).

[4] Deafness, Conductive, With Malformed External Ear. In: Online Mendelian Inheritance in Man . (English)

[5] Abnormalities of the kidney, genitals and middle ear. In: Orphanet (Rare Disease Database).