Living with Curly hair, ankyloblepharon, nail dysplasia syndrome
A rare condition with sparse, woolly, curly hair, eyelids stuck together at birth, and nail differences.
Understanding Curly hair, ankyloblepharon, nail dysplasia syndrome
It combines sparse, woolly, curly hair, eyelids that are stuck together (ankyloblepharon), and nail differences. Other features reported include a split tongue, lip pits, bands joining the lips, wide-set eyes, a flat nasal bridge, and a closed hymen. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Curly hair
- Eyelids stuck together (ankyloblepharon)
- Nail differences (nail dysplasia)
- Cleft palate or split tongue
- Missing adult teeth
- Less sweating (hypohidrosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in RIPK4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias, World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Foundation for Ectodermal Dysplasias and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the RIPK4 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: baughman syndrome; chand syndrome; chands; chands - curly hair, ankyloblepharon, nail dysplasia syndrome; curly hair-ankyloblepharon-nail dysplasia syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasCurly hair, ankyloblepharon, nail dysplasia syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Curly hair, ankyloblepharon, nail dysplasia syndrome.
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