Pediatric Diagnostic Clinical Facies Guide
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
Disclaimer
The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.
