Low-set ears, and Agenesis of corpus callosum

High match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

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

High match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

• Hypertelorism
• Abnormal facial shape
• Low-set ears
• Motor delay
• Macrocephaly

SOURCES: MESH ORPHANET OMIM MENDELIAN

High match HYDROLETHALUS

Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

• Micrognathia
• Cleft palate
• Cryptorchidism
• Low-set ears
• Hydrocephalus

SOURCES: ORPHANET MENDELIAN

High match LETHAL FETAL CEREBRORENOGENITOURINARY AGENESIS/HYPOPLASIA SYNDROME

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.

• Microcephaly
• Growth delay
• Micrognathia
• Low-set ears
• Wide nasal bridge

SOURCES: OMIM ORPHANET MENDELIAN

High match AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME

Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.

• Respiratory distress
• Agenesis of corpus callosum
• Narrow mouth
• Polyhydramnios
• Low-set, posteriorly rotated ears

SOURCES: ORPHANET MENDELIAN

High match SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

• Intellectual disability
• Global developmental delay
• Microcephaly
• Ataxia
• Growth delay

SOURCES: OMIM ORPHANET MENDELIAN

High match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

• Micrognathia
• Abnormal facial shape
• Cleft palate
• Cryptorchidism
• Low-set ears

SOURCES: MESH OMIM ORPHANET MENDELIAN

High match IVEMARK SYNDROME

Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

• Growth delay
• Hypertelorism
• Low-set ears
• Flexion contracture
• Intrauterine growth retardation

SOURCES: OMIM ORPHANET MENDELIAN

High match GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

• Intellectual disability
• Seizures
• Hypertelorism
• Strabismus
• Low-set ears

SOURCES: OMIM ORPHANET MESH MENDELIAN

High match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

• Hypertelorism
• Nystagmus
• Strabismus
• Cryptorchidism
• Low-set ears

SOURCES: ORPHANET MENDELIAN