Flexion contracture, and Inguinal hernia

Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME Is also known as distal arthrogryposis with ophthalmoplegia|distal arthrogryposis type 5|oculomelic amyoplasia|distal arthrogryposis type iib

• Ptosis
• Visual impairment
• Optic atrophy
• Pectus excavatum
• Inguinal hernia

SOURCES: ORPHANET MENDELIAN

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

• Seizures
• Global developmental delay
• Flexion contracture
• High palate
• Hyperreflexia

SOURCES: OMIM MENDELIAN

Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.

BRUCK SYNDROME Is also known as osteogenesis imperfecta with congenital joint contractures|osteogenesis imperfecta-congenital joint contractures syndrome

• Short stature
• Scoliosis
• Flexion contracture
• Talipes equinovarus
• Respiratory insufficiency

SOURCES: ORPHANET OMIM MENDELIAN

ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

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

SOURCES: ORPHANET OMIM MENDELIAN

• Intellectual disability
• Seizures
• Global developmental delay
• Strabismus
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).

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

SOURCES: OMIM MENDELIAN

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

• Global developmental delay
• Hypertelorism
• Muscle weakness
• Abnormal facial shape
• Pain

SOURCES: OMIM MENDELIAN

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

PYCR1-RELATED DE BARSY SYNDROME Is also known as pycr1 deficiency|pyrroline-5-carboxylate reductase 1 deficiency|de barsy syndrome b

• Intellectual disability
• Growth delay
• Hypertelorism
• Cryptorchidism
• Flexion contracture

SOURCES: OMIM ORPHANET MENDELIAN

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

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

SOURCES: ORPHANET OMIM MENDELIAN

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

• Intellectual disability
• Global developmental delay
• Scoliosis
• Hypertelorism
• Micrognathia

SOURCES: ORPHANET MENDELIAN