Rare Disease Library

Neonatal antiphospholipid syndrome

Neonatal Hughes syndrome · Neonatal antiphospholipid antibody syndrome

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

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

Mehes syndrome

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

H syndrome

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hughes-Stovin syndrome

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

Hurler syndrome

Hurler disease · MPS1H

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Infant acute respiratory distress syndrome

Hyaline membrane disease · Infant ARDS

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Nelson syndrome

Neonatal acute respiratory distress syndrome

Neonatal RDS · Hyaline membrane disease

Neonatal compartment syndrome

Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome

Neonatal Marfan syndrome

Neonatal MFS

Neonatal-infantile onset epilepsy syndrome

NESCAV syndrome

Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome

NEVADA syndrome

Nevus epidermicus verrucosus with angiodysplasia and aneurysms

Nevo syndrome

Cerebral gigantism, Nevo type

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome

OBSOLETE: Neonatal epilepsy syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Stüve-Wiedemann syndrome

STWS · Stüve-Wiedemann dysplasia

Subaortic stenosis-short stature syndrome

Onat syndrome

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

Young-Hughes syndrome