Cleft palate, and Hypodontia

Medium match VAN DER WOUDE SYNDROME

Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.

VAN DER WOUDE SYNDROME Is also known as cleft lip/palate with mucous cysts of lower lip|lip-pit syndrome|vws

• Cleft palate
• Cleft upper lip
• Hypodontia
• Abnormal salivary gland morphology
• Lip pit

SOURCES: ORPHANET MENDELIAN

Medium match TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Is also known as preaxial brachydactyly syndrome, temtamy type

• Intellectual disability
• Short stature
• Hearing impairment
• Growth delay
• Micrognathia

SOURCES: MESH OMIM ORPHANET MENDELIAN

Medium match LIMB-MAMMARY SYNDROME

Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

• Cleft palate
• Syndactyly
• Hypogonadism
• Camptodactyly
• Hypodontia

SOURCES: ORPHANET OMIM MESH MENDELIAN

Medium match BLEPHARO-CHEILO-ODONTIC SYNDROME

Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

• Hypertelorism
• Neoplasm
• Abnormal facial shape
• Cleft palate
• Blindness

SOURCES: ORPHANET OMIM MENDELIAN

Medium match ZLOTOGORA-OGUR SYNDROME

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

• Intellectual disability
• Seizures
• Micrognathia
• Cleft palate
• Wide nasal bridge

SOURCES: ORPHANET OMIM MENDELIAN

Medium match ROSSELLI-GULIENETTI SYNDROME

• Intellectual disability
• Seizures
• Global developmental delay
• Micrognathia
• Cleft palate

SOURCES: OMIM MENDELIAN

Medium match VAN DER WOUDE SYNDROME 1; VWS1

Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

• Scoliosis
• Micrognathia
• Cleft palate
• Cryptorchidism
• Flexion contracture

SOURCES: OMIM MENDELIAN

Medium match RAPP-HODGKIN SYNDROME; RHS

RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

• Short stature
• Hearing impairment
• Micrognathia
• Cleft palate
• Ptosis

SOURCES: OMIM ORPHANET MENDELIAN

Medium match OPITZ GBBB SYNDROME, TYPE I; GBBB1

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

• Intellectual disability
• Global developmental delay
• Hypertelorism
• Sensorineural hearing impairment
• Cleft palate

SOURCES: OMIM ORPHANET MENDELIAN

Medium match HYDRANENCEPHALY

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM ORPHANET MENDELIAN