Anemia, and Oligohydramnios

Medium match HB BART'S HYDROPS FETALIS

Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major|alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia|hemoglobin bart's hydrops fetalis

• Anemia
• Hepatomegaly
• Hydrocephalus
• Congestive heart failure
• Splenomegaly

SOURCES: ORPHANET MENDELIAN

Medium match HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

• Seizures
• Anemia
• Hypertension
• Intrauterine growth retardation
• Ventricular septal defect

SOURCES: OMIM MENDELIAN

Medium match NEPHRONOPHTHISIS 3; NPHP3

NEPHRONOPHTHISIS 3; NPHP3 Is also known as nph3

• Low-set ears
• Anemia
• Respiratory insufficiency
• Renal insufficiency
• Dilatation

SOURCES: OMIM MESH MENDELIAN

Medium match NEPHRONOPHTHISIS 2; NPHP2

NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

• Global developmental delay
• Anemia
• Hypertension
• Hepatomegaly
• Respiratory insufficiency

SOURCES: OMIM MESH MENDELIAN

Medium match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

• Seizures
• Global developmental delay
• Generalized hypotonia
• Muscle weakness
• Muscular hypotonia

SOURCES: ORPHANET MESH OMIM MENDELIAN

Medium match NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

• Seizures
• Global developmental delay
• Generalized hypotonia
• Growth delay
• Failure to thrive

SOURCES: OMIM MENDELIAN

Medium match TRANSALDOLASE DEFICIENCY

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

• Global developmental delay
• Growth delay
• Failure to thrive
• Abnormal facial shape
• Low-set ears

SOURCES: MESH OMIM ORPHANET MENDELIAN

Medium match NIEMANN-PICK DISEASE, TYPE C1; NPC1

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

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

SOURCES: ORPHANET OMIM MENDELIAN

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

• Intellectual disability
• Global developmental delay
• Hearing impairment
• Microcephaly
• Sensorineural hearing impairment

SOURCES: ORPHANET MESH OMIM MENDELIAN

Medium match FETAL GAUCHER DISEASE

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

• Seizures
• Generalized hypotonia
• Microcephaly
• Hypertelorism
• Micrognathia

SOURCES: ORPHANET MESH OMIM MENDELIAN