Living with Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
A rare genetic syndrome with developmental delay, short stature, distinct facial features, and sparse hair.
Understanding Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
Features include distinct facial features, short stature, sparse eyebrows, eyelashes, and scalp hair, small toenails, developmental delay, and intellectual disability. Some people have brain malformations and mild kidney problems. GARD lists onset during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Distinct facial features
- Small cerebellar vermis or Dandy-Walker malformation
- Kidney differences
- Flat feet
- Fingers or toes that stay bent (camptodactyly)
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in DPH1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
Changes in the DPH1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: dedssh1; developmental delay with short stature, dysmorphic features, and sparse hair 1; diphtamide deficiency syndrome; loucks-innes syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Developmental delay with short stature, dysmorphic facial features, and sparse hair 1.
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