Rare Disease Library

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

H syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Larsen syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Lateral meningocele syndrome

Lehman syndrome

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Liddle syndrome

Pseudoaldosteronism

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Limb body wall complex

LBWC syndrome · Body stalk anomaly

LUMBAR syndrome

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

Lynch syndrome

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

Microcephalic osteodysplastic primordial dwarfism types I and III

MOPD types I and III · Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type

Monosomy 9p syndrome

9p deletion syndrome · 9p- 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

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

PEHO-like syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Primary basilar invagination

Bull-Nixon syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

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

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Liberfarb syndrome

Thoracolaryngopelvic dysplasia

Barnes syndrome

Toxic epidermal necrolysis

Lyell syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome

Triple A syndrome

2A syndrome · 3A syndrome