Rare Disease Library

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

Acropectorovertebral dysplasia

F syndrome

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

MRAMS syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Banki syndrome

Behr syndrome

Behr complicated familial optic atrophy

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-intellectual disability-hypogonadism syndrome

Martsolf syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Choroidal atrophy-alopecia syndrome

Moloney syndrome · Regional choroidal atrophy and alopecia

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

Generalized eruptive keratoacanthoma

GEKA · Generalized eruptive keratoacanthomas of Grzybowski

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

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

MOMES syndrome

Intellectual disability-polydactyly-uncombable hair syndrome

Kozlowski-Krajewska syndrome

Kabuki syndrome

Kabuki make-up syndrome · Niikawa-Kuroki syndrome

L1 syndrome

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

Lenz-Majewski hyperostotic dysplasia

Lenz-Majewski syndrome · Lenz-Majewski hyperostotic dwarfism

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

Marfan syndrome

MFS

Marin-Amat syndrome