Hypertelorism, and Frontal bossing

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

• Intellectual disability
• Scoliosis
• Hypertelorism
• Cleft palate
• Frontal bossing

SOURCES: ORPHANET MESH OMIM MENDELIAN

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.

JACKSON-WEISS SYNDROME Is also known as craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|jws

• Hypertelorism
• Strabismus
• Ptosis
• Frontal bossing
• Midface retrusion

SOURCES: OMIM ORPHANET MENDELIAN

• Seizures
• Short stature
• Scoliosis
• Hypertelorism
• Muscular hypotonia

SOURCES: ORPHANET MENDELIAN

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

• Intellectual disability
• Seizures
• Generalized hypotonia
• Hypertelorism
• Failure to thrive

SOURCES: OMIM MENDELIAN

SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

• Global developmental delay
• Short stature
• Hypertelorism
• Ptosis
• Depressed nasal bridge

SOURCES: ORPHANET MENDELIAN

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

• Hearing impairment
• Hypertelorism
• Macrocephaly
• Gait disturbance
• Frontal bossing

SOURCES: OMIM MENDELIAN

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

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

SOURCES: OMIM MENDELIAN

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

• Hypertelorism
• Abnormal facial shape
• Low-set ears
• Motor delay
• Macrocephaly

SOURCES: MESH ORPHANET OMIM MENDELIAN

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

• Global developmental delay
• Short stature
• Generalized hypotonia
• Ataxia
• Hypertelorism

SOURCES: OMIM MENDELIAN

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment
• Hypertelorism

SOURCES: ORPHANET MESH OMIM MENDELIAN