Global developmental delay, and Postaxial polydactyly

This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by Mirzaa et al., 2014).For a discussion of genetic heterogeneity of MPPH, see MPPH1 (OMIM ).

• Global developmental delay
• Macrocephaly
• Ventriculomegaly
• Hydrocephalus
• Absent speech

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Global developmental delay
• Ataxia
• Cognitive impairment
• Syndactyly

SOURCES: OMIM MENDELIAN

BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise (Young et al., 1998; Ghadami et al., 2000).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Intellectual disability
• Global developmental delay
• Brachydactyly
• Blindness
• Obesity

SOURCES: OMIM MENDELIAN

• Global developmental delay
• Respiratory insufficiency
• Syndactyly
• Absent speech
• Polydactyly

SOURCES: OMIM MENDELIAN

• Global developmental delay
• Growth delay
• Abnormal facial shape
• Intrauterine growth retardation
• Syndactyly

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

BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Intellectual disability
• Global developmental delay
• Cognitive impairment
• Cardiomyopathy
• Atrial septal defect

SOURCES: OMIM MENDELIAN

Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

• Global developmental delay
• Generalized hypotonia
• Ataxia
• Nystagmus
• Spasticity

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Seizures
• Global developmental delay
• Ptosis
• Delayed speech and language development

SOURCES: OMIM MENDELIAN

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

• Seizures
• Global developmental delay
• Short stature
• Growth delay
• Cleft palate

SOURCES: OMIM ORPHANET MENDELIAN