Rare Disease Library

Isolated apodia

Isolated congenital absence of foot

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

Congenital bilateral absence of vas deferens

Congenital bilateral agenesis of vas deferens · Congenital bilateral aplasia of vas deferens

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital insensitivity to pain with hyperhidrosis · Congenital absence of pain with hyperhidrosis

Congenital isolated ACTH deficiency

Congenital isolated hyperinsulinism

PHHI · Persistent hyperinsulinemic hypoglycemia of infancy

Congenital megaprepuce

Isolated congenital buried penis

Congenital vertical talus

Congenital convex foot · Congenital convex pes valgus

Familial congenital mirror movements

Familial congenital controlateral synkinesia · Hereditary congenital controlateral synkinesia

Familial isolated congenital asplenia

Isolated absence of both forearm and hand

Isolated congenital radio-ulnar terminal transverse meromelia

Isolated absence of both lower leg and foot

Isolated congenital tibiofibular terminal transverse meromelia

Isolated absence of thigh and lower leg with foot present

Isolated congenital femoro-tibio-fibular intercalary transverse meromelia

Isolated absence/hypoplasia of fingers excluding thumb, unilateral

Isolated congenital adactyly of hand, unilateral · Isolated digits 2-5 hypodactyly, unilateral

Isolated acheiria

Isolated congenital absence of hand

Isolated amelia of lower limb

Isolated congenital absence of lower limb

Isolated amelia of upper limb

Isolated congenital absence of upper limb

Isolated congenital adermatoglyphia

Congenital absence of fingerprints · Immigration delay disease

Isolated congenital aglossia

Isolated congenital alacrima

Isolated congenital anonychia

Isolated anonychia

Isolated congenital anosmia

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

Isolated congenital cholesteatoma of the middle ear

CCME · Congenital middle ear cholesteatoma

Isolated congenital ectropion

Isolated congenital entropion

Isolated congenital femoral bifurcation

Isolated congenital distal femoral duplication

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated congenital hypoglossia

Isolated congenital hypoglossia/aglossia

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital gonadotropin deficiency · Gonadotropic deficiency

Isolated congenital laryngeal web

Isolated congenital megalocornea

Congenital anterior megalophthalmia

Isolated congenital microcephaly

Isolated congenital onychodysplasia

COIF · COIF syndrome

Isolated congenital radial head dislocation

Isolated congenital elbow dislocation

Isolated congenital sclerocornea

Isolated congenital syngnathia

Isolated congenital maxillomandibular fusion

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

Isolated fibular hemimelia

Isolated congenital longitudinal deficiency of the fibula · Isolated fibular longitudinal meromelia

Isolated growth hormone deficiency type IA

Congenital IGHD type IA · Congenital isolated GH deficiency type IA

Isolated growth hormone deficiency type IB

Congenital IGHD type IB · Congenital isolated GH deficiency type IB

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated humero-radial synostosis

Isolated congenital humeroradial fusion

Isolated humero-radio-ulnar synostosis

Isolated congenital humero-radioulnar fusion