Orphanet: Diagnostic des malformations avec fente vï¿½ï¿½ï¿½lo palatine Panel

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Diagnosis of malformation syndrome with cleft palate (Panel)

Laboratoire de génétique des maladies rares et autoinflammatoires
Département Génétique Médicale, Maladies rares et médecine personnalisée
CHU de Montpellier - Hôpital Arnaud de Villeneuve
371 avenue du Doyen Gaston Giraud
34295 MONTPELLIER CEDEX 5
FRANCE
Director of laboratory : Dr Mouna BARAT-HOUARI
More information

Phone : 33 (0)4 67 33 58 57
Additional Phone : -
Fax : 33 (0)4 67 33 58 67
Website
Contact
email

Last update: March 2023

Responsible of diagnostic test

Dr Mouna BARAT-HOUARI

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Mutation scanning/screening and sequence analysis of selected exons

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (70)

22q11.2 deletion syndrome

Aarskog-Scott syndrome

Abruzzo-Erickson syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Atelosteogenesis type I

Atelosteogenesis type III

Auriculocondylar syndrome

Autosomal dominant Robinow syndrome

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant popliteal pterygium syndrome

Autosomal recessive Robinow syndrome

Bartsocas-Papas syndrome

Blepharophimosis-intellectual disability syndrome, SBBYS type

Borjeson-Forssman-Lehmann syndrome

Branchio-oculo-facial syndrome

Burn-McKeown syndrome

CHARGE syndrome

Cantú syndrome

Catel-Manzke syndrome

Cerebrocostomandibular syndrome

Cleft hard palate

Cleft lip and alveolus

Cleft lip/palate

Coffin-Siris syndrome

Cornelia de Lange syndrome

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Floating-Harbor syndrome

Frontometaphyseal dysplasia

Genitopatellar syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Isolated Pierre Robin syndrome

Isolated cleft lip

KDM5C-related syndromic X-linked intellectual disability

Kabuki syndrome

Kleefstra syndrome

Koolen-De Vries syndrome

Larsen syndrome

Mandibulofacial dysostosis with alopecia

Mandibulofacial dysostosis-microcephaly syndrome

Melnick-Needles syndrome

Nicolaides-Baraitser syndrome

Opitz GBBB syndrome

Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Periventricular nodular heterotopia

Richieri Costa-Pereira syndrome

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Rubinstein-Taybi syndrome due to CREBBP mutations

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

SPECC1L-related hypertelorism syndrome

Stickler syndrome type 1

Submucosal cleft palate

Tessier number 4 facial cleft

Tessier number 7 facial cleft

Treacher-Collins syndrome

Uveal coloboma-cleft lip and palate-intellectual disability

Van der Woude syndrome

Wiedemann-Steiner syndrome

X-linked cleft palate and ankyloglossia

X-linked intellectual disability, Siderius type

Zimmermann-Laband syndrome

List of genes tested (including panels) (98)

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.