Juberg-Hayward syndrome

Classification according to ICD-10
Q87.0	Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Juberg-Hayward syndrome or orokraniodigitales syndrome is a hereditary disease with cleft lip and palate , microcephaly and abnormal thumb.

Synonyms are:

Cleft lip and palate - thumb abnormalities - microcephaly
Oro-cranio-digital syndrome

The name refers to the first description from 1969 by the American pediatrician Richard Juberg and the oral surgeon James R. Hayward .

distribution

The frequency is given as less than 1 in 1,000,000, the inheritance is presumably autosomal - recessive , autosomal dominant inheritance is also possible.

Clinical manifestations

Criteria are:

mostly bilateral cleft lip and palate
Epicanthus , hypertelorism , broad and clumsy tip of the nose
Microcephaly
Hypoplastic after distal shifted thumb without Beugbarkeit the phalanges
Radius hypoplasia with a dislocation of the radial head and limited extensibility in the elbow
Clinodactyly of the 4th toe, syndactyly II / III
Short stature

diagnosis

A prenatal diagnosis has been reported.

Differential diagnosis

The following must be distinguished from the differential diagnosis:

OFM rodent syndrome
Goldenhar symptom complex
LARD (Lacrimoauriculoradiodental Syndrome)

literature

M. Silengo, L. Tornetta: Juberg-Hayward syndrome: report of a case with cleft palate, distally placed thumbs and vertebral anomalies. In: Clinical dysmorphology. Vol. 9, No. 2, April 2000, pp. 127-129, ISSN 0962-8827 . PMID 10826626 .
HM Kingston, IA Hughes, PS Harper: Orocraniodigital (Juberg-Hayward) syndrome with growth hormone deficiency. In: Archives of Disease in Childhood. Vol. 57, No. 10, October 1982, pp. 790-792, ISSN 1468-2044 . PMID 7138070 . PMC 1627920 (free full text).

Individual evidence

↑ ^a ^b ^c B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
↑ ^a ^b ^c Juberg-Hayward syndrome. In: Orphanet (Rare Disease Database).
^ RC Juberg, JR Hayward: A new familial syndrome of oral, cranial, and digital anomalies. In: The Journal of pediatrics. Vol. 74, No. 5, May 1969, pp. 755-762, ISSN 0022-3476 . PMID 5778829 .
^ S. Couvreur-Lionnais, T. Rousseau, N. Laurent, C. Thauvin-Robinet, E. Senet-Lacombe, AL Delezoïde, F. Mugneret, C. Durand, L. Faivre, P. Sagot (2005): Prenatal diagnosis of Juberg-Hayward syndrome. In: Prenatal Diagnosis . 25: pp. 172-175. doi : 10.1002 / pd.943 . PMID 15712337 .

Web links

Juberg-Hayward syndrome. In: Online Mendelian Inheritance in Man . (English)

[Leiber-1] B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9

[Orpha-2] Juberg-Hayward syndrome. In: Orphanet (Rare Disease Database).

[3] RC Juberg, JR Hayward: A new familial syndrome of oral, cranial, and digital anomalies. In: The Journal of pediatrics. Vol. 74, No. 5, May 1969, pp. 755-762, ISSN 0022-3476 . PMID 5778829 .

[4] S. Couvreur-Lionnais, T. Rousseau, N. Laurent, C. Thauvin-Robinet, E. Senet-Lacombe, AL Delezoïde, F. Mugneret, C. Durand, L. Faivre, P. Sagot (2005): Prenatal diagnosis of Juberg-Hayward syndrome. In: Prenatal Diagnosis . 25: pp. 172-175. doi : 10.1002 / pd.943 . PMID 15712337 .