Rare Disease Library

Capillary-lymphatic-venous malformation with segmental distribution

CLVM with segmental distribution · Klippel-Trénaunay syndrome

Inverse Klippel-Trénaunay syndrome

Cutaneous hemangioma with muscle or bone atrophy

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Isolated Klippel-Feil syndrome

Congenital cervical vertebral fusion · Congenital fused cervical segments

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

OBSOLETE: Angioosteohypertrophic syndrome

OBSOLETE: Klippel-Trénaunay-Weber syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome