Low-set ears, and Feeding difficulties in infancy

Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

• Abnormal facial shape
• Low-set ears
• Brachydactyly
• Ventriculomegaly
• Edema

SOURCES: OMIM ORPHANET MESH MENDELIAN

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

• Seizures
• Generalized hypotonia
• Low-set ears
• Hepatomegaly
• Wide nasal bridge

SOURCES: MESH OMIM MENDELIAN

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

SOURCES: ORPHANET OMIM MENDELIAN

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

• Intellectual disability
• Short stature
• Generalized hypotonia
• Scoliosis
• Hypertelorism

SOURCES: OMIM MENDELIAN

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

• Seizures
• Hypertelorism
• Failure to thrive
• Abnormal facial shape
• Low-set ears

SOURCES: MESH OMIM MENDELIAN

• Global developmental delay
• Short stature
• Generalized hypotonia
• Cryptorchidism
• Low-set ears

SOURCES: OMIM MENDELIAN

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

• Generalized hypotonia
• Hypertelorism
• Micrognathia
• Muscle weakness
• Ptosis

SOURCES: MESH OMIM MENDELIAN

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

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

SOURCES: OMIM MESH MENDELIAN

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

• Global developmental delay
• Generalized hypotonia
• Hearing impairment
• Micrognathia
• Cleft palate

SOURCES: OMIM MENDELIAN

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

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

SOURCES: ORPHANET MESH OMIM MENDELIAN