Gender and year of birth
Female, 2017
Description
Alina was born with multiple severe medical problems and has required many operations and intensive supportive care. She remains without a diagnosis after extensive genetic testing including whole genome sequencing
Symptoms / Signs
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Severe global developmental delay - very floppy (hypotonia)
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Very small jaw (severe mandibular hypoplasia)
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Very small mouth
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Cleft palate
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Congenital heart condition (patent ductus arteriosus)
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Severe breathing difficulties - reliant on a tracheostomy and needs oxygen at night
Severe feeding difficulties - fed via a G-tube - gastro-oesophageal reflux and constipation -
Epilepsy and larger spaces within the brain (triventricular hydrocephalus)
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Distinctive facial features including smaller head (microcephaly), lower set ears with distinctive appearance to the outer ear, very small and recessed chin (microretrognathia), short neck, narrow forehead (bitemporal narrowing), small eyes (microopthalmia) with distinctive appearance (telecanthus and epicanthus inversus). Bushy eyebrows and distinctive hair pattern (hypertrichosis forehead and back)She is unable to easily move her facial muscles ('mask like facies')
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Limb differences: small and incorrectly positioned thumbs (thumb hypoplasia), overlapping fingers, gap between great toe and other toes (sandal toe gap), webbed toes (2,3 toe syndactyly)
Current Treatments
- Antiseizure medication
- Tracheostomy
- PEG feeding
- Prior Treatments
- PDA ligation
- Tracheostomy
- Mandibular bony protraction surgery
- PEG feeding
Previously Considered Diagnoses
- Mandibulo-acral phenotypes
- Acro-facial phenotypes
- Nablus-Mask like syndrome
Genetic Variants of Interest
N/A
Siblings, age & gender
Has one unaffected sister
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
She is a happy girl, loves music, moves her toes in rhythm, reacts to music, smiles and looks at her name.
