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Michels-Caskey Syndrome

Presentation

Entire Body System

Short Stature

stature deafness neutrophil dysfunction Short stature syndrome, Brussels type Short stature wormian bones dextrocardia Short stature-craniofacial anomalies-genital hypoplasia syndrome SHORT syndrome Short-chain acyl-CoA dehydrogenase deficiency Short-limb[rarediseases.info.nih.gov]

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]

Musculoskeletal

Torticollis

Maffucci syndrome Majeed syndrome Male pseudohermaphroditism due to defective LH molecule Male pseudohermaphroditism intellectual disability syndrome, Verloes type Malignant Atrophic Papulosis Malignant hyperthermia Malignant hyperthermia arthrogryposis torticollis[rarediseases.info.nih.gov]

Neurologic

Convulsions

Microcephaly brain defect spasticity hypernatremia Microcephaly cervical spine fusion anomalies Microcephaly deafness syndrome Microcephaly glomerulonephritis Marfanoid habitus Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions[rarediseases.info.nih.gov]

Seizure

[…] syndrome Becker muscular dystrophy Becker nevus syndrome Beckwith-Wiedemann syndrome Beemer Ertbruggen syndrome Behr syndrome Benallegue Lacete syndrome Benign essential blepharospasm Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures[rarediseases.info.nih.gov]

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