Rare Disease Library

Richards-Rundle syndrome

Ketoaciduria-intellectual disability-ataxia-deafness syndrome · Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome

Richieri Costa-da Silva syndrome

Myotonia-intellectual disability-skeletal anomalies syndrome

Richieri Costa-Pereira syndrome

Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome · Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome

Rapidly involuting congenital hemangioma

RICH

Acrofrontofacionasal dysostosis

Richieri-Costa-Colletto syndrome

Blepharofacioskeletal syndrome

Richieri Costa-Guion Almeida-Rodini syndrome

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Microbrachycephaly-ptosis-cleft lip syndrome

Richieri Costa-Guion Almeida-Ramos syndrome

Oculomaxillofacial dysostosis

Richieri-Costa-Gorlin syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome

Richieri Costa-Guion Almeida syndrome

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

Acquired hypertrichosis lanuginosa

Amaurosis-hypertrichosis syndrome

Atrichia with papular lesions

Papular atrichia

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

Beta-thalassemia-trichothiodystrophy syndrome

Cataract-hypertrichosis-intellectual disability syndrome

CAHMR syndrome

Cervical hypertrichosis-peripheral neuropathy syndrome

Classic Hodgkin lymphoma, lymphocyte-rich type

Congenital generalized hypertrichosis, Ambras type

Ambras syndrome

Dermotrichic syndrome

Ectodermal dysplasia, trichoodontoonychial type

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

FHEIG syndrome

Familial isolated trichomegaly

Familial multiple trichoepithelioma

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

Hereditary hypotrichosis with recurrent skin vesicles

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Hereditary thrombophilia due to congenital HRG deficiency

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

Hypertrichosis lanuginosa congenita

Hypertrichosis universalis

Hypertrichosis-acromegaloid facial appearance syndrome

HAFF · Hypertrichosis-acromegaloid facial features syndrome

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Hypotrichosis simplex

Hereditary hypotrichosis simplex

Hypotrichosis simplex of the scalp

Hereditary hypotrichosis simplex of the scalp

Hypotrichosis with juvenile macular degeneration

HJMD · Hypotrichosis with juvenile macular dystrophy

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Hypotrichosis-intellectual disability, Lopes type

Lopes-Marques de Faria syndrome

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Isolated anterior cervical hypertrichosis

Hairy throat syndrome · Tsukahara-Kajii syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Marie Unna hereditary hypotrichosis

Hypotrichosis, Marie Unna type · MUHH

Metaphyseal dysplasia without hypotrichosis

Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome

OBSOLETE: Atrichia-intellectual disability and growth delay syndrome

OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly

OBSOLETE: Trueb-Burg-Bottani syndrome

OBSOLETE: Congenital ichthyosis with trichothiodystrophy