Molecular Genetics - Craniofacial and Skeletal Disorders --- Center for Human Genetics

Craniofacial and
Skeletal Disorders

Molecular Genetics - Craniofacial and Skeletal Disorders


disease	OMIM disease	gene OMIM (analysis methods¹)	localisation
Craniofacial and Skeletal Disorders
Contact: PD Dr. med. Ute Hehr, MD, Genetic counsellor ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑ e-mail

Craniosynostosis, syndromal

Apert Syndrome	101200	FGFR2	10q26
Beare-Stevenson Cutis Gyrata Syndrome	123790	FGFR2	10q26
Crouzon Syndrome (Craniofacial Dysostosis Type I)	123500	FGFR2	10q26
Crouzon Syndrome with Acanthosis Nigricans	123500	FGFR3	4p16.3
Jackson-Weiss Syndrome	123150	FGFR2	10q26
Muenke Syndrome	602849	FGFR3	4p16.3
Pfeiffer Syndrome (Acrocephalosyndactyly Type V)	101600	FGFR1	8p11.2-p11.1
		FGFR2	10q26
		FGFR3	4p16.3
Saethre-Chotzen Syndrome (Acrocephalosyndactyly Type III)	101400	FGFR3	4p16.3
Saethre-Chotzen Syndrome (Acrocephalosyndactyly Type III)	101400	TWIST	7p21

other

Achondroplasia	100800	FGFR3	4p16.3
Branchiootorenal Dysplasia	113650	EYA1	8q13.3
		SIX1	14q23
		SIX5	19q13.3
EEC Syndrome 3	604292	p63	3q27
Limb-Mammary Syndrome	603543	p63	3q27
Hay-Wells Syndrome (AEC Syndrome)	106260	p63	3q27
Popliteal Pterygium Syndrome	119500	IRF6	1q32-q41
Rapp-Hodgkin Syndrome	129400	p63	3q27
Treacher Collins-Franceschetti Syndrome	154500	TCOF1	5q32-q33.1
Van der Woude Syndrome	119300	IRF6	1q32-q41

Routinely analysis is performed by sequencing, additional methods are indicated as follows:

FISH

Fluorescence in situ Hybridisation

MLPA

3 kb-founder-insertion