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anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis

MONDO:0011078

Also known as:Jung Wolff back Stahl syndrome

Overview

A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Abnormal hair morphology, Abnormality of the dentition, Hip dysplasia, and Short foot and 12 more.

Organ System	Phenotype Count	Example Features
Hormones	2	Decreased response to growth hormone stimulation test, Congenital hypothyroidism

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 12:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601427

Orphanet

European rare disease database

Orphanet:2321

GARD

Genetic and Rare Diseases Info Center

GARD:3062

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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