Rare Disease Library

Isolated hyperphalangy

Supernumerary phalanx · Isolated congenital supernumerary phalanges

Congenital isolated hyperinsulinism

PHHI · Persistent hyperinsulinemic hypoglycemia of infancy

Congenital megaprepuce

Isolated congenital buried penis

Familial congenital mirror movements

Familial congenital controlateral synkinesia · Hereditary congenital controlateral synkinesia

Isolated congenital aglossia

Isolated congenital alacrima

Isolated congenital anonychia

Isolated anonychia

Isolated congenital anosmia

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

Isolated congenital ectropion

Isolated congenital entropion

Isolated congenital hypoglossia

Isolated congenital laryngeal web

Isolated congenital megalocornea

Congenital anterior megalophthalmia

Isolated congenital microcephaly

Isolated congenital sclerocornea

Isolated congenital syngnathia

Isolated congenital maxillomandibular fusion

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated humero-radial synostosis

Isolated congenital humeroradial fusion

Isolated humero-ulnar synostosis

Isolated congenital humeroulnar fusion

Isolated nail clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

Isolated pyloric duplication

Isolated duplication cyst of the pyloric canal · Isolated duplication cyst of the pylorus

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

OBSOLETE: Hyperphalangy, bilateral

OBSOLETE: Supernumerary phalanx, bilateral · OBSOLETE: Supernumerary phalanges, bilateral

OBSOLETE: Hyperphalangy, unilateral

OBSOLETE: Hyperphalangy in digits 2-5 · OBSOLETE: Supernumerary phalanx, unilateral

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia