Rare Disease Library

Isolated congenital adermatoglyphia

Congenital absence of fingerprints · Immigration delay disease

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 deformities of fingers

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

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

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 apodia

Isolated congenital absence of foot

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

Isolated partial vaginal agenesis

Congenital absence of vagina

Isolated tibial hemimelia

Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

OBSOLETE: Acheiria, bilateral

OBSOLETE: Congenital absence of hand, bilateral

OBSOLETE: Acheiria, unilateral

OBSOLETE: Congenital absence of hand, unilateral

OBSOLETE: Adactyly of foot

OBSOLETE: Congenital absence of toes

OBSOLETE: Adactyly of foot, bilateral

OBSOLETE: Congenital absence of toes, bilateral

OBSOLETE: Adactyly of foot, unilateral

OBSOLETE: Congenital absence of toes, unilateral

OBSOLETE: Apodia, bilateral

OBSOLETE: Congenital absence of foot, bilateral

OBSOLETE: Apodia, unilateral

OBSOLETE: Congenital absence of foot, unilateral

OBSOLETE: Congenital absence of the eyebrow/eyelashes

OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb

OBSOLETE: Digits 2-5 hypodactyly · OBSOLETE: Digits 2-5 oligodactyly

Phocomelia, Schinzel type

Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA