Flexion contracture, and Polyhydramnios

• Flexion contracture
• Macrocephaly
• Polyhydramnios
• Arthrogryposis multiplex congenita
• Decreased fetal movement

SOURCES: OMIM MENDELIAN

• Flexion contracture
• Talipes equinovarus
• Polyhydramnios
• Retrognathia
• Camptodactyly

SOURCES: OMIM MENDELIAN

Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

• Generalized hypotonia
• Muscle weakness
• Flexion contracture
• Feeding difficulties
• Skeletal muscle atrophy

SOURCES: OMIM MENDELIAN

Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.

PONTOCEREBELLAR HYPOPLASIA TYPE 4 Is also known as fatal infantile encephalopathy with olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia|pch4

• Seizures
• Microcephaly
• Spasticity
• Flexion contracture
• Cerebellar atrophy

SOURCES: ORPHANET MESH OMIM MENDELIAN

Lethal congenital contracture syndrome-8, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

• Generalized hypotonia
• Cleft palate
• Flexion contracture
• Respiratory distress
• Areflexia

SOURCES: OMIM MENDELIAN

Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by Bauche et al., 2016).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

• Generalized hypotonia
• Scoliosis
• Muscle weakness
• Ptosis
• Cognitive impairment

SOURCES: OMIM MENDELIAN

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

• Generalized hypotonia
• Growth delay
• Hypertelorism
• Flexion contracture
• High palate

SOURCES: OMIM MESH ORPHANET MENDELIAN

Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

• Generalized hypotonia
• Micrognathia
• Cleft palate
• Flexion contracture
• Areflexia

SOURCES: OMIM MENDELIAN

Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME Is also known as myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome type 5|lccs5

• Generalized hypotonia
• Flexion contracture
• Peripheral neuropathy
• Respiratory insufficiency
• Myopathy

SOURCES: OMIM ORPHANET MENDELIAN

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

• Seizures
• Generalized hypotonia
• Hearing impairment
• Failure to thrive
• Strabismus

SOURCES: ORPHANET OMIM MENDELIAN