Rosselli–Gulienetti syndrome

Rosselli–Gulienetti syndrome
Synonyms	Zlotogora–Ogur syndrome, Bowen–Armstrong syndrome
Pronounce
Field	Medical genetics, Dermatology
Symptoms	Cleft lip, cleft palate, intellectual disability, ectodermal dysplasia, ankyoblepharon, nail dysplasia, hypohidrosis, dry skin, delayed bone growth
Complications	Feeding difficulties, speech problems, recurrent infections
Onset	Congenital
Duration	Lifelong
Types
Causes	Mutations in the PVRL1 gene
Risks	Parental consanguinity
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	EEC syndrome, AEC syndrome, Rapp–Hodgkin syndrome, Hay–Wells syndrome
Prevention	Genetic counseling
Treatment	Supportive care, surgical correction of clefts
Medication	Symptomatic treatment for skin and nail conditions
Prognosis	Variable; depends on severity of symptoms
Frequency	Very rare
Deaths	Rare; may occur due to complications in severe cases

Autosomal recessive inheritance, a 25% chance

Rosselli–Gulienetti syndrome, also known as Zlotogora–Ogur syndrome or Bowen–Armstrong syndrome, is a rare genetic disorder classified under the group of ectodermal dysplasia syndromes. It is characterized by a combination of craniofacial anomalies, intellectual disability, and ectodermal defects affecting the skin, nails, teeth, and hair.

Signs and symptoms

The clinical features vary among affected individuals but typically include:

• Cleft lip and/or cleft palate
• Intellectual disability
• Features of ectodermal dysplasia including:
  • Sparse hair
  • Dry skin (xerosis)
  • Hypohidrosis (reduced sweating)
  • Absent or malformed nails
  • Tooth abnormalities
• Ankyoblepharon (fused eyelids)
• Delayed bone development
• Feeding and speech difficulties due to clefting

Cause

Rosselli–Gulienetti syndrome is caused by mutations in the PVRL1 gene, located on chromosome 11q23–q24. This gene encodes nectin-1, a cell adhesion molecule important in the development of epithelial tissue. Nectin-1 is also a receptor for certain alpha-herpesviruses, although viral susceptibility is not a clinical feature of the syndrome.

Mutations in PVRL1 disrupt nectin-dependent cell adhesion processes, particularly in keratinocytes, leading to defective development of ectoderm-derived tissues such as skin, nails, and craniofacial structures.

Inheritance

Rosselli–Gulienetti syndrome is inherited in an autosomal recessive pattern, meaning a child must inherit two defective copies of the PVRL1 gene (one from each parent) to be affected. Parents of affected children are typically asymptomatic carriers.

Diagnosis

Diagnosis is based on:

• Recognition of characteristic clinical features
• Family history and inheritance pattern
• Molecular genetic testing confirming mutations in the PVRL1 gene

Differential diagnosis includes other syndromes involving ectodermal dysplasia and clefting, such as AEC syndrome, EEC syndrome, and Rapp–Hodgkin syndrome.

Treatment

There is no specific cure for Rosselli–Gulienetti syndrome. Management focuses on treating individual symptoms:

• Surgical correction of cleft lip and cleft palate
• Supportive care for developmental delays
• Dental interventions for tooth abnormalities
• Skin and nail care with moisturizing agents or dermatologic treatment
• Speech therapy and feeding support
• Genetic counseling for families

Prognosis

The prognosis varies depending on the severity of symptoms. With appropriate supportive care, many individuals can lead stable lives, though developmental and functional impairments may persist.

See also

• Ectodermal dysplasia
• Cleft palate
• Autosomal recessive inheritance
• PVRL1
• Congenital syndromes

External links

Classification	ICD-10: Q87.0 ICD-9-CM: 757.39 OMIM: 225000 DiseasesDB: 32747
External resources	Orphanet: 90339