MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

ORPHA:1969Malform.
Unknown

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

ORPHA:708171Malform.
Autosomal recessive

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

ORPHA:659609Malform.
Autosomal dominant

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

ORPHA:598603Malform.
Autosomal dominant

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

ORPHA:412022Malform.
Autosomal recessive

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

ORPHA:1970Malform.
Autosomal recessive

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

ORPHA:314555Malform.
Autosomal recessive

Facial dysmorphism-shawl scrotum-joint laxity syndrome

ORPHA:1778Malform.

Faciocardiorenal syndrome

ORPHA:1973Malform.
Autosomal recessive

Fallot complex-intellectual disability-growth delay syndrome

ORPHA:3304Malform.
Autosomal recessive

Familial caudal dysgenesis

ORPHA:1768Malform.
Autosomal dominant

Familial cerebral cavernous malformation

ORPHA:221061Malform.
Autosomal dominant

Familial clubfoot with or without associated lower limb anomalies

ORPHA:199315Malform.
Autosomal dominant

Familial digital arthropathy-brachydactyly

ORPHA:85169Malform.
Autosomal dominant

Familial isolated café-au-lait macules

ORPHA:2678Malform.
Autosomal dominant

Familial median cleft of the upper and lower lips

ORPHA:401942Malform.
Unknown

Familial omphalocele syndrome with facial dysmorphism

ORPHA:280403Malform.
Autosomal dominant

Familial osteodysplasia, Anderson type

ORPHA:2769Malform.

Familial retinal arterial macroaneurysm

ORPHA:284247Malform.
Autosomal recessive

Familial scaphocephaly syndrome, McGillivray type

ORPHA:168624Malform.
Autosomal dominant

Familial vesicoureteral reflux

ORPHA:289365Malform.
Autosomal dominant

Fanconi anemia

ORPHA:84Malform.
Autosomal recessive, X-linked recessive

Feingold syndrome

ORPHA:1305Malform.
Autosomal dominant

Femoral-facial syndrome

ORPHA:1988Malform.
Not applicable