Rare Disease Library

8q22.1 microdeletion syndrome

Monosomy 8q22.1 · Nablus mask-like facial syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Femoral-facial syndrome

FFS · FHUFS

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

Fraser-like syndrome

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Martsolf-like syndrome

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Malpuech syndrome

3MC3 syndrome · Malpuech facial clefting syndrome

Mosaic Legius syndrome

Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

PEHO-like syndrome

Proteus-like syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

Van den Ende-Gupta syndrome

Marden-Walker-like syndrome · VDEGS

Velo-facial-skeletal syndrome

Weaver-like syndrome