Pediatric Diagnostic Facies App
Pediatric Diagnostic Facies
Clinical Significance
- Facial features often provide first diagnostic clue
- Critical for early recognition of genetic syndromes
- Guide for further diagnostic workup
- Important for timely intervention
Syndromic Facies
Down Syndrome Facies
Key Features:
- Upslanting palpebral fissures
- Epicanthal folds
- Flat nasal bridge
- Small mouth with protruding tongue
- Brushfield spots in iris
Associated Findings: Hypotonia, single palmar crease, cardiac defects
Genetic Basis: Trisomy 21
Williams Syndrome Facies
Key Features:
- Elfin facies
- Periorbital fullness
- Short upturned nose
- Long philtrum
- Full cheeks and lips
- Wide mouth with dental spacing
Associated Findings: Supravalvular aortic stenosis, hypercalcemia
Genetic Basis: 7q11.23 deletion
Noonan Syndrome Facies
Key Features:
- Hypertelorism
- Downslanting palpebral fissures
- Ptosis
- Low-set posteriorly rotated ears
- Webbed neck
Associated Findings: Pulmonary stenosis, cryptorchidism
Genetic Basis: PTPN11 gene mutations
Treacher Collins Syndrome Facies
Key Features:
- Downslanting palpebral fissures
- Coloboma of lower eyelids
- Malar hypoplasia
- Micrognathia
- External ear anomalies
Associated Findings: Conductive hearing loss, cleft palate
Genetic Basis: TCOF1 gene mutations
Metabolic Disorders
Hurler Syndrome Facies
Key Features:
- Coarse facial features
- Prominent forehead
- Depressed nasal bridge
- Thick lips
- Enlarged tongue
- Corneal clouding
Associated Findings: Hepatosplenomegaly, skeletal dysplasia
Biochemical Defect: α-L-iduronidase deficiency
Hunter Syndrome Facies
Key Features:
- Coarse features
- Broad nose
- Thick lips
- Large jowls
- Clear corneas (unlike Hurler)
Associated Findings: Joint stiffness, cardiac valve disease
Biochemical Defect: Iduronate-2-sulfatase deficiency
Morquio Syndrome Facies
Key Features:
- Prominent forehead
- Broad mouth
- Widely spaced teeth
- Short neck
- Distinctive skeletal features
Associated Findings: Skeletal dysplasia, corneal clouding
Biochemical Defect: GALNS or GLB1 gene mutations
Endocrine Disorders
Cushing Syndrome Facies
Key Features:
- Moon face
- Facial plethora
- Buffalo hump
- Supraclavicular fat pads
- Hirsutism
Associated Findings: Central obesity, striae, hypertension
Hypothyroid Facies
Key Features:
- Coarse facial features
- Puffy eyelids
- Macroglossia
- Dry, coarse skin
- Periorbital edema
Associated Findings: Growth delay, delayed bone age
Growth Hormone Deficiency Facies
Key Features:
- Immature face
- Prominent forehead
- Midface hypoplasia
- Small pointed chin
- Delayed dentition
Associated Findings: Short stature, delayed bone age
Chromosomal Abnormalities
Turner Syndrome Facies
Key Features:
- Low posterior hairline
- Webbed neck
- High arched palate
- Micrognathia
- Low-set ears
Associated Findings: Short stature, shield chest
Genetic Basis: 45,X karyotype
DiGeorge Syndrome Facies
Key Features:
- Hypertelorism
- Short palpebral fissures
- Bulbous nasal tip
- Small mouth
- Ear abnormalities
Associated Findings: Thymic hypoplasia, cardiac defects
Genetic Basis: 22q11.2 deletion
Cri du Chat Syndrome Facies
Key Features:
- Round face
- Hypertelorism
- Downslanting palpebral fissures
- Low-set ears
- Micrognathia
Associated Findings: Cat-like cry, developmental delay
Genetic Basis: 5p deletion
Other Conditions
Fetal Alcohol Syndrome Facies
Key Features:
- Short palpebral fissures
- Smooth philtrum
- Thin upper lip
- Midface hypoplasia
- Small head circumference
Associated Findings: Growth deficiency, neurodevelopmental problems
Progeria Facies
Key Features:
- Prominent scalp veins
- Large head
- Small face
- Prominent eyes
- Micrognathia
- Limited subcutaneous fat
Associated Findings: Premature aging, atherosclerosis
Beckwith-Wiedemann Syndrome Facies
Key Features:
- Macroglossia
- Facial nevus flammeus
- Ear creases/pits
- Infraorbital creases
Associated Findings: Macrosomia, organomegaly
Angelman Syndrome Facies
Key Features:
- Wide mouth
- Prominent chin
- Deep-set eyes
- Protruding tongue
Associated Findings: Happy demeanor, seizures
Prader-Willi Syndrome Facies
Key Features:
- Almond-shaped eyes
- Narrow bifrontal diameter
- Thin upper lip
- Downturned mouth corners
Associated Findings: Hyperphagia, obesity
Cornelia de Lange Syndrome Facies
Key Features:
- Synophrys (meeting of eyebrows)
- Long, thick eyelashes
- Thin, downturned lips
- Small upturned nose
- Low anterior/posterior hairline
- Micrognathia
Associated Findings: Growth retardation, limb defects
Genetic Basis: NIPBL gene mutations
Marfan Syndrome Facies
Key Features:
- Long, narrow face
- Deep-set eyes
- Downslanting palpebral fissures
- High-arched palate
- Micrognathia
- Dolichocephaly
Associated Findings: Aortic root dilation, lens dislocation
Genetic Basis: FBN1 gene mutations
Apert Syndrome Facies
Key Features:
- Acrocephaly (pointed head)
- Flat midface
- Wide-set eyes
- Beaked nose
- Shallow orbits
- Proptosis
Associated Findings: Syndactyly, craniosynostosis
Genetic Basis: FGFR2 mutations
Russell-Silver Syndrome Facies
Key Features:
- Triangular face
- Prominent forehead
- Small chin
- Downturned mouth corners
- Face appears small for head
Associated Findings: Intrauterine growth restriction, asymmetry
Genetic Basis: Chromosome 7 or 11 abnormalities
Freeman-Sheldon Syndrome Facies
Key Features:
- Whistling face appearance
- Small mouth (microstomia)
- H-shaped dimpling of chin
- Full forehead
- Deep nasolabial folds
Associated Findings: Joint contractures, skeletal abnormalities
Genetic Basis: MYH3 gene mutations
Kabuki Syndrome Facies
Key Features:
- Long palpebral fissures
- Eversion of lateral third of lower eyelid
- Arched eyebrows with sparse lateral third
- Large prominent ears
- Depressed nasal tip
Associated Findings: Developmental delay, skeletal anomalies
Genetic Basis: KMT2D or KDM6A mutations
Smith-Lemli-Opitz Syndrome Facies
Key Features:
- Microcephaly
- Bitemporal narrowing
- Ptosis
- Anteverted nares
- Micrognathia
Associated Findings: Growth retardation, 2-3 toe syndactyly
Biochemical Defect: Cholesterol synthesis disorder
Rett Syndrome Facies
Key Features:
- Normal early facial development
- Acquired microcephaly
- Bruxism
- Open mouth appearance
Associated Findings: Hand stereotypies, regression
Genetic Basis: MECP2 mutations
