Femoral-Facial Syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

A femoral-facial syndrome is a congenital disorder with underdevelopment or absence of the thigh bone together with characteristic facial changes ( dysmorphism ).

It was first described in 1961 by CH Franz and R. O'Rahilly .

distribution

Inheritance may be dominant. There is an association with gestational diabetes . Most cases occur sporadically; familial accumulation has been reported in individual cases.

Clinical manifestations

Clinical criteria are:

Femoral hypoplasia or aplasia , fibula hypoplasia, clubfoot , decreased extensibility in the elbow
Disproportionate short stature
Facial dysmorphism with mongoloid lid axis, short nose, long philtrum , microgenius , cleft palate
Pelvic dysplasia with a too small pelvic vane and enlarged obturator foramen
Lumbar vertebral abnormalities

The changes are often asymmetrical.

diagnosis

The possibility of a prenatal diagnosis has been reported.

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
^ CH Franz, R. O'Rahilly: Congenital skeletal limb deficiencies. In: Journal of Bone and Joint Surgery 1961, Vol. 43, p. 1202
↑ ^a ^b Femoral-Facial Syndrome. In: Orphanet (Rare Disease Database).
↑ E. Silva, F. Rypens, M. Jovanovic, AL Delezoide, N. Patey: Prenatal diagnosis of femoral-facial syndrome: report of two cases. In: Birth defects research. Part A, Clinical and Molecular Teratology. Vol. 97, No. 12, December 2013, pp. 770-773, ISSN 1542-0760 . doi : 10.1002 / bdra.23201 . PMID 24254654 .
^ S. Castro, E. Peraza, M. Zapata: Prenatal diagnosis of femoral-facial syndrome: case report. In: Journal of clinical ultrasound: JCU. Vol. 42, No. 1, January 2014, pp. 49-52, ISSN 1097-0096 . doi : 10.1002 / jcu.22034 . PMID 23325749 .

Web links

Femoral-Facial 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

[2] CH Franz, R. O'Rahilly: Congenital skeletal limb deficiencies. In: Journal of Bone and Joint Surgery 1961, Vol. 43, p. 1202

[Orpha-3] Femoral-Facial Syndrome. In: Orphanet (Rare Disease Database).

[4] E. Silva, F. Rypens, M. Jovanovic, AL Delezoide, N. Patey: Prenatal diagnosis of femoral-facial syndrome: report of two cases. In: Birth defects research. Part A, Clinical and Molecular Teratology. Vol. 97, No. 12, December 2013, pp. 770-773, ISSN 1542-0760 . doi : 10.1002 / bdra.23201 . PMID 24254654 .

[5] S. Castro, E. Peraza, M. Zapata: Prenatal diagnosis of femoral-facial syndrome: case report. In: Journal of clinical ultrasound: JCU. Vol. 42, No. 1, January 2014, pp. 49-52, ISSN 1097-0096 . doi : 10.1002 / jcu.22034 . PMID 23325749 .