X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Last reviewed March 21, 2026

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ORPHA:85320Q87.8

Who is this for?

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13Specialists 8Treatment centers

Where are you in your journey?

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.

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Overview

Also known as:

Johnson syndrome

Clinical phenotype terms— hover any for plain English:

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for X-linked intellectual disability-macrocephaly-macroorchidism syndrome.

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Clinical Trials

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No actively recruiting trials found for X-linked intellectual disability-macrocephaly-macroorchidism syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the X-linked intellectual disability-macrocephaly-macroorchidism syndrome community →

Specialists

13 foundView all specialists →

CC

Chun Bing Chen

Specialist

Erythema multiforme major Stevens-Johnson syndrome Toxic epidermal necrolysis

PI on 1 active trial891 X-linked intellectual disability-macrocephaly-macroorchidism syndrome publications

Active trials Directions Travel grants

DF

Donald T Tan, FRCS

Specialist

Erythema multiforme major Stevens-Johnson syndrome Toxic epidermal necrolysis

PI on 1 active trial

Active trials Directions Travel grants

PM

Pinnita Prabhasawat, MD

Specialist

Erythema multiforme major Limbal stem cell deficiency Stevens-Johnson syndrome+1 more

PI on 3 active trials

Active trials Directions Travel grants

LF

Leonard P Ang, FRCS

Specialist

Erythema multiforme major Stevens-Johnson syndrome Toxic epidermal necrolysis

PI on 1 active trial

Active trials Directions Travel grants

EM

Elizabeth J Phillips, MD

Specialist

Erythema multiforme major Genetic epidermal disorder Stevens-Johnson syndrome+1 more

PI on 1 active trial

Active trials Directions Travel grants

SP

Saskia Oro, PhD

Specialist

Erythema multiforme major Overlapping connective tissue disease Stevens-Johnson syndrome+2 more

PI on 1 active trial

Active trials Directions Travel grants

JM

Joseph Ciolino, MD

BOSTON, MA

Specialist

Bullous pemphigoid Drug-induced lupus erythematosus Erythema multiforme major+4 more

PI on 1 active trial

Active trials Directions Travel grants

SM

Saskia Oro, MD

Specialist

Erythema multiforme major Fixed drug eruption Stevens-Johnson syndrome+1 more

PI on 1 active trial

Active trials Directions Travel grants

EM

Eckert Philippe, MD

Specialist

Erythema multiforme major Stevens-Johnson syndrome Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum+1 more

PI on 1 active trial

Active trials Directions Travel grants

JM

Jettanong klaewsongkram, MD

Specialist

Autoimmune pulmonary alveolar proteinosis Disorders of vitamin D metabolism Drug reaction with eosinophilia and systemic symptoms+8 more

PI on 7 active trials

Active trials Directions Travel grants

ED

Edwaldo Dr Dourado, Doctor

Specialist

Erythema multiforme major Stevens-Johnson syndrome Toxic epidermal necrolysis

PI on 1 active trial

Active trials Directions Travel grants

TM

Thomas Neuhann, Prof. MD

Specialist

Erythema multiforme major Stevens-Johnson syndrome Toxic epidermal necrolysis

PI on 1 active trial

Active trials Directions Travel grants

ML

Maria Carlota Londoño Londoño

Specialist

Dubin-Johnson syndrome Rotor syndrome

PI on 1 active trial1 X-linked intellectual disability-macrocephaly-macroorchidism syndrome publication

Active trials Directions Travel grants

Treatment Centers

8 centers

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

UCLA Rare Disease Day Program ↗

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to X-linked intellectual disability-macrocephaly-macroorchidism syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about X-linked intellectual disability-macrocephaly-macroorchidism syndrome

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Which specialists treat X-linked intellectual disability-macrocephaly-macroorchidism syndrome?

13 specialists and care centers treating X-linked intellectual disability-macrocephaly-macroorchidism syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.