ORPHA:1548
Cryptorchidism-arachnodactyly-intellectual disability syndrome
Also known as: Van Benthem-Driessen-Hanveld syndrome
Clinical definition (Orphanet)
Cryptorchidism-arachnodactyly- syndrome is a rare, multiple anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial 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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
3
3 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
3 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
1 in the last 10 years · high confidence · 9.6th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
18
Distinct author names in 3 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Ayyala RS1 paper · 2023
Department of Ophthalmology, Morsani College of Medicine, University of South Florida Eye Institute, 12901 Bruce B Down Blvd., MDC 21, Tampa, FL 33612, USA.
Papers in Europe PMC - 02Birk OS1 paper · 2015
The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Papers in Europe PMC - 03Birk R1 paper · 2015
Faculty of Health Sciences, Department of Nutrition, Ariel University, Ariel, Israel.
Papers in Europe PMC - 04Bright-Long LE1 paper · 1993
Department of Psychiatry and Behavioral Science, State University of New York, Stony Brook, and the Psychiatric Service, University Hospital, Stony Brook, New York, USA.
Papers in Europe PMC - 05Fine D1 paper · 2015
The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Papers in Europe PMC - 06Fink M1 paper · 1993Papers in Europe PMC
- 07Flusser H1 paper · 2015
Zusman Child Development Center, Pediatric Division, Soroka University Medical Center and Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Papers in Europe PMC - 08Galil A1 paper · 2015
Zusman Child Development Center, Pediatric Division, Soroka University Medical Center and Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Papers in Europe PMC - 09Gradstein L1 paper · 2015
Department of Ophthalmology, Soroka University Medical Center and Clalit Health Services, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Papers in Europe PMC - 10Khateeb S1 paper · 2015
The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Cryptorchidism-arachnodactyly-intellectual disability syndrome" OR "Van Benthem-Driessen-Hanveld syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cryptorchidism-arachnodactyly-intellectual disability syndrome" OR "Van Benthem-Driessen-Hanveld syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C4707233
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus