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Bagatelle-Cassidy Syndrome

Macrocephaly, Short Limbs, and Deafness

Presentation

Entire Body System

Anemia

[…] type 1 Congenital dyserythropoietic anemia type 2 Congenital dyserythropoietic anemia type 3 Congenital ectodermal dysplasia with hearing loss Congenital erythropoietic porphyria Congenital extrahepatic portosystemic shunt Congenital femoral deficiency[rarediseases.info.nih.gov]

Lymphedema

[…] and cerebral arteriovenous anomaly Lymphedema, microcephaly and chorioretinopathy syndrome Lymphedema-distichiasis syndrome Lynch syndrome - Not a rare disease Lysinuric protein intolerance Mac Dermot Winter syndrome Macrocephaly, benign familial Macrocephaly-short[rarediseases.info.nih.gov]

Respiratoric

Hypoventilation

[…] deficiency Congenital amegakaryocytic thrombocytopenia Congenital analbuminemia Congenital anosmia Congenital bilateral absence of the vas deferens Congenital bile acid synthesis defect, type 1 Congenital bile acid synthesis defect, type 2 Congenital central hypoventilation[rarediseases.info.nih.gov]

Eyes

Ectopia Lentis

lentis Bloom syndrome Blount disease Blue cone monochromatism Blue diaper syndrome Blue rubber bleb nevus syndrome BOD syndrome Bohring-Opitz syndrome Bone dysplasia Azouz type Bone dysplasia lethal Holmgren type Book syndrome Boomerang dysplasia BOR-Duane[rarediseases.info.nih.gov]

Skin

Alopecia

[…] epilepsy oligophrenia syndrome of Moynahan Alopecia intellectual disability syndrome 2 Alopecia totalis Alopecia universalis Alopecia universalis onychodystrophy vitiligo Alopecia, epilepsy, pyorrhea, mental subnormality Alopecia-contractures-dwarfism-intellectual[rarediseases.info.nih.gov]

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