Short rib-polydactyly syndrome, Verma-Naumoff type

Also known as: Short rib-polydactyly syndrome type 3
 

Definition

Orphanet

Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

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Classification

Categories:
This Disease:
Short rib-polydactyly syndrome, Verma-Naumoff type
Variants:

Symptoms

Medical Term Other Names Description
Anal atresia Imperforate anus Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Renal agenesis Missing kidney, Absent kidney, Renal aplasia [more] Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Disproportionate short-limb short stature Short-limbed dwarfism, Micromelic dwarfism, Short-limb dwarfism, Disproportionate short limb dwarfism, Brachymelic dwarfism [more] A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Protuberant abdomen Abdominal protuberance A thrusting or bulging out of the abdomen.
Severe short stature Proportionate dwarfism, Dwarfism A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Limb undergrowth limb shortening, Hypoplasia involving bones of the extremities, Short limb [more] Limb shortening because of underdevelopment of one or more bones of the extremities.
Ambiguous genitalia Ambiguous external genitalia, Intersex genitalia, Ambiguous external genitalia at birth [more] A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
Postaxial polydactyly Postaxial hexadactyly A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.
Thoracic dysplasia
Cerebellar hypoplasia Hypoplastic cerebellum, Underdeveloped cerebellum, Small cerebellum, Congenital cerebellar hypoplasia [more] Underdevelopment of the cerebellum.
Polydactyly A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Short ribs Rib hypoplasia, Hypoplastic ribs Reduced rib length.

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