Rare Disease Library

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

Aase-Smith syndrome type 1

Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome

Autoimmune lymphoproliferative syndrome

ALPS · Canale-Smith syndrome

Bannayan-Riley-Ruvalcaba syndrome

BRRS · Myhre-Riley-Smith syndrome

Ichthyosis-oral and digital anomalies syndrome

Clayton Smith-Donnai syndrome

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

King-Denborough syndrome

Koussef-Nichols syndrome

Marshall-Smith syndrome

Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Progeria-short stature-pigmented nevi syndrome

Mulvihill-Smith syndrome

SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome

Kilquist syndrome

Smith-Fineman-Myers syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Smith-Magenis syndrome

17p11.2 microdeletion syndrome

Superior limbic keratoconjunctivitis

SLK · Theodore superior limbic keratoconjunctivitis

Tarsal kink syndrome

X small rings syndrome