Rare Disease Library

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

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Multiple endocrine neoplasia type 1

MEN1 · Wermer 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

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

PEHO-like syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Prader-Willi-like syndrome

PWS-like

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Rubinstein-Taybi syndrome

Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner 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

TAFRO syndrome

Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome

Tako-Tsubo cardiomyopathy

Ampulla cardiomyopathy · Apical ballooning syndrome

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome

TEMPI syndrome

Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome