Karsch-Neugebauer Syndrome

Classification according to ICD-10
Q87.2	Congenital malformation syndromes with predominant involvement of the extremities
ICD-10 online (WHO version 2019)

The Karsch-Neugebauer-Syndrome (English: nystagmus-split hand syndrome ) is a very rare hereditary disorder with the main characteristics ectrodactyly (split hand / split foot) and nystagmus (eye tremors).

The first description was made in 1936 by the ophthalmologist J. Karsch and in 1962 by the Viennese orthopedist H. Neugebauer based on an affected family in several generations .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant . So far, around 10 patients in 4 families have been described.

root cause

The etiology is not yet known.

Clinical manifestations

Clinical criteria are:

Reduction defects of the extremities: Cleft hand or foot in varying degrees
Contractures of the finger joints, camptodactyly , symphalangism
Eye malformation: strabismus , blinking, horizontal nystagmus , fundus changes, cataract , pigmentation disorder of the retina

diagnosis

The disease can already be detected prenatally by means of fine ultrasound .

literature

VM Mathian, AM Sundaram, R. Karunakaran, R. Vijayaragavan, S. Vinod, R. Rubini: An unusual occurrence of Karsch-Neugebauer syndrome with orodental anomalies. In: Journal of pharmacy & bioallied sciences. Volume 4, Suppl 2 August 2012, pp. S171-S173, doi: 10.4103 / 0975-7406.100262 . PMID 23066244 , PMC 3467867 (free full text).
SC Wong, JM Cobben, S. Hiemstra, PH Robinson, M. Heeg: Karsch-Neugebauer syndrome in two sibs with unaffected parents. In: American journal of medical genetics. Volume 75, Number 2, January 1998, pp. 207-210. PMID 9450888 (Review).

Individual evidence

↑ ^a ^b 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 .
↑ J. Karsch: Hereditary eye malformation in connection with split hand and foot. In: Journal of Ophthalmology. Volume 89, 1936, pp. 274-279.
↑ H. Neugebauer: Split hand and foot with family peculiarities. In: Journal for orthopedics and their border areas. Volume 95, 1962.
↑ ^a ^b Karsch-Neugebauer syndrome. In: Orphanet (Rare Disease Database).

[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 .

[2] J. Karsch: Hereditary eye malformation in connection with split hand and foot. In: Journal of Ophthalmology. Volume 89, 1936, pp. 274-279.

[3] H. Neugebauer: Split hand and foot with family peculiarities. In: Journal for orthopedics and their border areas. Volume 95, 1962.

[Orpha-4] Karsch-Neugebauer syndrome. In: Orphanet (Rare Disease Database).