Rare Disease Library

Limb body wall complex

LBWC syndrome · Body stalk anomaly

Locked-in syndrome

Pseudocoma · LIS

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Lynch syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

PEHO-like syndrome

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

SAPHO syndrome

Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Toxic epidermal necrolysis

Lyell syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

X-linked dystonia-parkinsonism

DYT3 · Lubag

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome