Lethal hemolytic anemia-genital anomalies syndrome

A rare syndrome characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000069 Abnormality of the ureter Very frequent (99-80%)
HP:0000929 Abnormal skull morphology Very frequent (99-80%)
HP:0001562 Oligohydramnios Very frequent (99-80%)
HP:0001852 Sandal gap Very frequent (99-80%)
HP:0001903 Anemia Very frequent (99-80%)
HP:0002093 Respiratory insufficiency Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000233 Thin vermilion border Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000457 Depressed nasal ridge Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001541 Ascites Frequent (79-30%)
HP:0001561 Polyhydramnios Frequent (79-30%)
HP:0001744 Splenomegaly Frequent (79-30%)
HP:0001928 Abnormality of coagulation Frequent (79-30%)
HP:0006703 Aplasia/Hypoplasia of the lungs Frequent (79-30%)
HP:0008678 Renal hypoplasia/aplasia Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID