Cleft palate, and Broad forehead

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

• Short stature
• Hearing impairment
• Scoliosis
• Hypertelorism
• Nystagmus

SOURCES: ORPHANET MENDELIAN

Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

• Microcephaly
• Cleft palate
• Low-set ears
• Talipes equinovarus
• Short neck

SOURCES: OMIM MENDELIAN

Holoprosencephaly associated with mutations in the ZIC2 gene.

• Intellectual disability
• Global developmental delay
• Microcephaly
• Hypertelorism
• Abnormal facial shape

SOURCES: OMIM MESH MENDELIAN

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly
• Hypertelorism

SOURCES: MESH OMIM MENDELIAN

Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

• Microcephaly
• Micrognathia
• Cleft palate
• Anteverted nares
• Abnormality of cardiovascular system morphology

SOURCES: ORPHANET MENDELIAN

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

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

• Intellectual disability
• Global developmental delay
• Hearing impairment
• Microcephaly
• Abnormal facial shape

SOURCES: ORPHANET OMIM MENDELIAN

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Is also known as tar syndrome

• Scoliosis
• Micrognathia
• Sensorineural hearing impairment
• Cleft palate
• Thrombocytopenia

SOURCES: ORPHANET MENDELIAN

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

• Intellectual disability
• Short stature
• Generalized hypotonia
• Hearing impairment
• Micrognathia

SOURCES: OMIM MENDELIAN

Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

• Short stature
• Generalized hypotonia
• Hearing impairment
• Micrognathia
• Abnormal facial shape

SOURCES: OMIM MENDELIAN