Absence of fingerprints-congenital milia syndrome

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ORPHA:1658OMIM:129200Q82.8
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Overview

Absence of fingerprints-congenital milia syndrome, also known as Baird syndrome or adermatoglyphia with congenital facial milia, is an extremely rare genetic skin disorder characterized by the congenital absence of dermatoglyphics (fingerprints, as well as palm prints and sole prints) combined with the presence of milia — small, white, keratin-filled cysts — that are typically present on the face at birth or early infancy. The condition primarily affects the integumentary system (skin). Affected individuals are born without the normal epidermal ridge patterns on the fingers, palms, and soles, a feature that can cause practical difficulties with biometric identification systems. The facial milia may diminish over time but can also persist. Additional features reported in some cases include reduced sweating on the palms and soles and blistering of the skin, particularly in areas subject to friction. This syndrome was first described in a small number of families, and the genetic basis has been linked to mutations in the SMARCAD1 gene (specifically in a skin-specific isoform), which plays a role in chromatin remodeling and skin development. The condition follows an autosomal dominant inheritance pattern with variable expressivity. There is currently no specific curative treatment for this syndrome. Management is supportive and symptomatic, focusing on skin care for milia (which may resolve spontaneously or can be treated with minor dermatological procedures) and addressing any complications related to reduced sweating or skin fragility. Genetic counseling is recommended for affected families.

Also known as:

Clinical phenotype terms— hover any for plain English:

Amniotic constriction ringHP:0009775
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Absence of fingerprints-congenital milia syndrome.

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No actively recruiting trials found for Absence of fingerprints-congenital milia syndrome at this time.

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No specialists are currently listed for Absence of fingerprints-congenital milia syndrome.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Absence of fingerprints-congenital milia syndrome.

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Common questions about Absence of fingerprints-congenital milia syndrome

What is Absence of fingerprints-congenital milia syndrome?

Absence of fingerprints-congenital milia syndrome, also known as Baird syndrome or adermatoglyphia with congenital facial milia, is an extremely rare genetic skin disorder characterized by the congenital absence of dermatoglyphics (fingerprints, as well as palm prints and sole prints) combined with the presence of milia — small, white, keratin-filled cysts — that are typically present on the face at birth or early infancy. The condition primarily affects the integumentary system (skin). Affected individuals are born without the normal epidermal ridge patterns on the fingers, palms, and soles,

How is Absence of fingerprints-congenital milia syndrome inherited?

Absence of fingerprints-congenital milia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Absence of fingerprints-congenital milia syndrome typically begin?

Typical onset of Absence of fingerprints-congenital milia syndrome is neonatal. Age of onset can vary across affected individuals.