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cryptorchidism-arachnodactyly-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cryptorchidism-arachnodactyly-intellectual disability syndrome

MONDO:0015473

Also known as:Van Benthem-Driessen-Hanveld syndromecryptorchidism arachnodactyly intellectual deficit

Overview

Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.

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 very common findings: Dolichocephaly, Strabismus, Pectus carinatum, and Arachnodactyly and others; and common findings: Abnormal testis morphology, Hypospadias, Abnormality of the dentition, and Joint stiffness and others.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Joint stiffness, Sideways curvature of the spine (scoliosis), Delayed skeletal maturation

Diagnosis

Biomarker and diagnostic research for cryptorchidism-arachnodactyly-intellectual disability syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 very common features, 8 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 cryptorchidism-arachnodactyly-intellectual disability syndrome.

301 publications have been identified in PubMed for cryptorchidism-arachnodactyly-intellectual disability syndrome. Kisho has analyzed 93 by research type. Research spans Review / Meta-Analysis (37%), Basic Science / Preclinical (24%), and Case Report / Case Series (18%).

Research Type	Count	% of Total
Research summaries	34	37%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1548

GARD

Genetic and Rare Diseases Info Center

GARD:860

Questions for Your Care Team

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Kisho

cryptorchidism-arachnodactyly-intellectual disability syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cryptorchidism-arachnodactyly-intellectual disability syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications