Rare Disease Library

Frontonasal dysplasia

Median cleft face syndrome

Acropectorovertebral dysplasia

F syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

CLAPO syndrome

Cogan syndrome

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

Mehes syndrome

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

Friedman-Goodman syndrome · FACES syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

FATCO syndrome

Hecht-Scott syndrome · Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

Malpuech syndrome

3MC3 syndrome · Malpuech facial clefting syndrome

Median cleft lip/mandible

Median mandibular cleft · Median cleft lower facial stage

Median facial cleft

Midline facial cleft · Tessier number 0-14 and 30 facial cleft

MEDNIK syndrome

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

MEHMO syndrome

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

Meigs syndrome

Demons-Meigs syndrome

Melhem-Fahl syndrome

MEND syndrome

Male EBP disorder with neurological defects

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

OBSOLETE: Syndromic frontonasal dysplasia

OBSOLETE: Syndromic median cleft syndrome

Orofacial clefting syndrome

Paramedian facial cleft

Tessier number 1-1 and 2-12 facial cleft

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Syngnathia-cleft palate syndrome

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome