Rare Disease Library

Combined immunodeficiency with facio-oculo-skeletal anomalies

Roifman-Chitayat syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CHAND syndrome

Baughman syndrome · CHANDS

Char syndrome

Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

CHARGE syndrome

CHARGE association · Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome

CHILD syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects · CHILD nevus

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Cogan syndrome

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

CHOPS syndrome

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Hajdu-Cheney syndrome

Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible

Hinman syndrome

HAS · HS

Isolated congenital onychodysplasia

COIF · COIF syndrome

Lateral meningocele syndrome

Lehman syndrome

Mayer-Rokitansky-Küster-Hauser syndrome

MRKH syndrome · Rokitansky syndrome

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

Neutral lipid storage disease with ichthyosis

NLSDI · Dorfman-Chanarin syndrome

OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome

OBSOLETE: Stalker-Chitayat syndrome

Pierre Robin syndrome-faciodigital anomaly syndrome

Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Romano-Ward syndrome

Romano-Ward long QT syndrome

Rombo syndrome

Rotor syndrome

Hyperbilirubinemia, Rotor type

Rowell syndrome

Spondylometaphyseal dysplasia with combined immunodeficiency

Roifman-Melamed syndrome · SPENCDI

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome