Hypertelorism, and Dandy-Walker malformation

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Scoliosis

SOURCES: OMIM MENDELIAN

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

• Intellectual disability
• Global developmental delay
• Short stature
• Hypertelorism
• Micrognathia

SOURCES: OMIM ORPHANET MENDELIAN

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Ataxia
• Hypertelorism

SOURCES: ORPHANET OMIM MENDELIAN

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

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

SOURCES: OMIM MENDELIAN

Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Scoliosis
• Growth delay

SOURCES: OMIM MENDELIAN

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Ataxia
• Growth delay

SOURCES: OMIM MENDELIAN

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

• Microcephaly
• Hypertelorism
• Micrognathia
• Cleft palate
• Cataract

SOURCES: ORPHANET MENDELIAN

Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

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

SOURCES: OMIM MENDELIAN

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

• Growth delay
• Hypertelorism
• Flexion contracture
• Hepatomegaly
• Intrauterine growth retardation

SOURCES: OMIM MENDELIAN

• Hypertelorism
• Cleft palate
• Cryptorchidism
• Respiratory insufficiency
• Microphthalmia

SOURCES: OMIM MENDELIAN