Preferred Label : Thumb agenesis, short stature, and immunodeficiency;
Type : Phenotype or locus, molecular basis unknown;
Description : In Saskatchewan, Shokeir (1978) identified 3 sibships in 2 possibly related kindreds
of German-Austrian extraction with a syndrome of absent thumbs, short stature with
skeletal abnormalities such as unfused olecranon, and severe combined immunodeficiency.
Severe chickenpox and chronic candidiasis were features. Congenital heart malformation
(septal defect) also occurred in 1 kindred. Delayed puberty and anosmia were features
in both males and females. Inheritance of this distinct syndrome is almost certainly
autosomal recessive. *FIELD* RF 1. Shokeir, M. H. K.: Short stature, absent thumbs,
flat facies, anosmia, and combined immunodeficiency (CID). Birth Defects Orig. Art.
Ser. XIV(6A): 103-116, 1978. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : %274190;
Origin ID : 274190;
UMLS CUI : C1848818;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
