Rare Disease Library

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

FRAXF syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Fried syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

H syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypocomplementemic urticarial vasculitis

Anti-C1q vasculitis · Mac Duffie hypocomplementemic urticarial vasculitis

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

Dykes-Marks-Harper syndrome

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Martsolf-like syndrome

Juberg-Marsidi syndrome

L1 syndrome

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

Limb-mammary syndrome

LMS

Lung agenesis-heart defect-thumb anomalies syndrome

Mardini-Nyhan syndrome

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

Maffucci syndrome

Multiple Enchondromatosis, Maffucci Type · Multiple Enchondromatosis type II

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

Majeed syndrome

Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Malpuech syndrome

3MC3 syndrome · Malpuech facial clefting syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Mandibulofacial dysostosis-microcephaly syndrome

MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type

Marcus-Gunn syndrome

Jaw-winking syndrome · Mandibulo-palpebral synkinesis-ptosis syndrome

Marden-Walker syndrome

Marfan syndrome

MFS

Marfan syndrome type 1

MFS1

Marfan syndrome type 2

MFS2

Marin-Amat syndrome

Marshall syndrome

Marshall-Smith syndrome

Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Martínez-Frías syndrome

Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

May-Hegglin thrombocytopenia

MHA · May-Hegglin anomaly

May-Thurner syndrome

MTS · Cockett syndrome

Mayer-Rokitansky-Küster-Hauser syndrome

MRKH syndrome · Rokitansky syndrome

Mazabraud syndrome

Myxoma with fibrous dysplasia

Meckel syndrome

Dysencephalia splanchnocystica · Meckel-Gruber syndrome

MEDNIK syndrome

Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome · Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

MEGDEL syndrome

3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome

MEHMO syndrome

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

Meigs syndrome

Demons-Meigs syndrome