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short stature-craniofacial anomalies-genital hypoplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature-craniofacial anomalies-genital hypoplasia syndrome

MONDO:0008335

Also known as:Haspeslagh-Fryns-Muelenaere syndromeHaspeslagh syndromepterygia intellectual disability facial dysmorphism

Overview

Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.

GeneticsAutosomal dominant

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 always present findings: Short stature, Trigonocephaly, Malar flattening, and Microretrognathia and others; and common findings: Hypoplastic female external genitalia and Multiple pterygia. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Seizure, Intellectual disability

Diagnosis

Biomarker and diagnostic research for short stature-craniofacial anomalies-genital hypoplasia syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 2 common features.

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

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for short stature-craniofacial anomalies-genital hypoplasia syndrome.

202 publications have been identified in PubMed for short stature-craniofacial anomalies-genital hypoplasia syndrome. Kisho has analyzed 47 by research type. Research spans Review / Meta-Analysis (53%), Case Report / Case Series (17%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Research summaries	25	53%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:177980

Orphanet

European rare disease database

Orphanet:2994

GARD

Genetic and Rare Diseases Info Center

GARD:2605

Questions for Your Care Team

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Kisho

short stature-craniofacial anomalies-genital hypoplasia syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

short stature-craniofacial anomalies-genital hypoplasia syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications