Cleft palate, and Gastroesophageal reflux

Medium match AURICULOCONDYLAR SYNDROME 2; ARCND2

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

• Global developmental delay
• Generalized hypotonia
• Hearing impairment
• Micrognathia
• Cleft palate

SOURCES: OMIM MENDELIAN

Medium match SWEENEY-COX SYNDROME; SWCOS

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

• Global developmental delay
• Hearing impairment
• Hypertelorism
• Micrognathia
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

Medium match EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

• Seizures
• Global developmental delay
• Generalized hypotonia
• Scoliosis
• Growth delay

SOURCES: ORPHANET OMIM MENDELIAN

Medium match MEIER-GORLIN SYNDROME 5; MGORS5

• Microcephaly
• Failure to thrive
• Micrognathia
• Cleft palate
• Cryptorchidism

SOURCES: OMIM MENDELIAN

Medium match CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR

CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR Is also known as cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

• Intellectual disability
• Global developmental delay
• Short stature
• Microcephaly
• Abnormal facial shape

SOURCES: MESH OMIM MENDELIAN

Medium match CORNELIA DE LANGE SYNDROME 4; CDLS4

• Global developmental delay
• Short stature
• Microcephaly
• Cleft palate
• Ptosis

SOURCES: OMIM MENDELIAN

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

• Short stature
• Scoliosis
• Hypertelorism
• Failure to thrive
• Abnormal facial shape

SOURCES: OMIM ORPHANET MESH MENDELIAN

Medium match CORNELIA DE LANGE SYNDROME 3; CDLS3

Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

• Intellectual disability
• Global developmental delay
• Short stature
• Hearing impairment
• Microcephaly

SOURCES: OMIM 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 MEIER-GORLIN SYNDROME 6; MGORS6

• Intellectual disability
• Global developmental delay
• Hearing impairment
• Failure to thrive
• Micrognathia

SOURCES: OMIM MENDELIAN