Rare Disease Library

Angioosteohypotrophic syndrome

Phlebectatic osteohypoplastic angiodysplasia · Servelle-Martorell syndrome

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Cataract-intellectual disability-hypogonadism syndrome

Martsolf syndrome

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

Chondrodysplasia-difference of sex development syndrome

Nivelon-Nivelon-Mabille syndrome · Chondrodysplasia-disorder of sex development syndrome

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Deafness-intellectual disability syndrome, Martin-Probst type

X-linked hearing loss-intellectual disability syndrome · Martin-Probst syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Fibrous dysplasia/McCune-Albright syndrome

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

Fragile X syndrome

FRAXA syndrome · FXS

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Intellectual disability-early-onset cataract-microcephaly syndrome

Baralle-Macken syndrome

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

Martsolf-like syndrome

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

Majeed syndrome

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

Marfan syndrome

MFS

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

Mitchell Syndrome

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Rowell syndrome

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Toxic epidermal necrolysis

Lyell syndrome