Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome".
We here report a rather novel syndrome of dysmorphic features, short stature, microcephaly, alopecia, psychomotor retardation, retinitis pigmentosa and secondary amenorrhoea. This may present a new complex multisystem disorder distinct from those reported in the literature and we propose the acronym D-CHRAMPS for this novel disorder.
Hiyasat
Dana
D
Dehyyat
Munir A
MA
Ajlouni
Saleh
S
Mubaidin
Ammar F
AF
Till
Maha
M
Hadidi
Azmi
A
El-Shanti
Hatem
H
Ajlouni
Kamel M
KM
D000293:Adolescent; D000505:Alopecia / Q000235:genetics*; D001827:Body Height; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D011596:Psychomotor Disorders / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome