Rare Disease Library

Autosomal dominant popliteal pterygium syndrome

Facio-genito-popliteal syndrome · Popliteal web syndrome

Acropectorovertebral dysplasia

F syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Dislocation of the hip-dysmorphism syndrome

Collins-Pope syndrome

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

H syndrome

Hereditary acrokeratotic poikiloderma

Weary syndrome

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

POIKTMP syndrome

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome

ILNEB syndrome · Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

LUMBAR syndrome

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

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Multiple synostoses syndrome

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

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

N syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

PAGOD syndrome

Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

Painful legs and moving toes syndrome

PLMT syndrome

PAPA syndrome

FRA · Familial recurrent arthritis

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

Parkes Weber syndrome

PASH syndrome

Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

PLACK syndrome

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Perry syndrome

Parkinsonism with alveolar hypoventilation and mental depression

PFAPA syndrome

Marshall syndrome with periodic fever · Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Poland syndrome

Poland anomaly · Poland sequence

Pollitt syndrome

Trichorrhexis nodosa syndrome · Trichothiodystrophy type C

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

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

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

Popliteal pterygium syndrome

Postpoliomyelitis syndrome

Postpolio sequelae · Postpolio syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Progressive supranuclear palsy

PSP syndrome