Dysmorphologychecklist



|Name: #: | Dysmorphology Exam |Examiner: Date / / |

| | |Setting: |

|BD: / / Age: yrs m | | |

| [pic]| Ht: ( %; 50th for age ) HR RR BP / |SCORING |

| |Wt: ( %: 50th for age ) OFC ( %; 50th for age ) |( Normal or: |

| | |( Anomaly present: comments |

| |( Underweight for height ( Short stature ( Microcephaly |(-- other finding |

| |( Overweight for height ( Tall stature ( Macrocephaly | |

| |( Normal ( Unusual texture: |[pic] |[pic] |

|[pic] |( Sparse/alopecia | | |

| |( Unusual pattern, extra whorls | | |

| |( Unruly, uncombable | | |

|[pic] |( Normal ( Abnormal shape: |[pic] |

| |( Ridged suture(s): | |

| |( Open suture(s): | |

| |( Abnormal fontanelle(s): ( cm x cm) | |

| |(-- (-- | |

| |( Normal ( Unusual gestalt:: |[pic] |

|[pic] |( Asymmetry: | |

| |( Round ( Coarse ( Long/ narrow ( Myopathic | |

| |(-- (-- | |

| |( Normal |[pic][pic] |

|[pic] |Eyebrows: ( Arched ( Medial flare | |

| |Eyelids: ( Ptosis ( -- | |

| |Eye fissures ( Narrow ( Wide | |

| |Eye slant (( ( ( ( -- | |

| |Sclerae ( Blue ( -- | |

| |( Iris: ( Pupils: | |

| | |(-- Intercanthal distance Interpupillary distance |

| | |(-- cm ( ____%)* cm ( ____%) * |

| |( Normal |( R ear cm ( ___%)* (Large (Small |[pic] |

|[pic] |Simplified (R: (L: |( L ear cm ( ___%)* (Large (Small | |

| |Pits/grooves (R: (L: |Pinnae (R: (L: | |

| |Tags (R: (L: |Lobes (R: (L: | |

| | |(R-- (L-- | |

| |( Normal ( Absent/cleft ( Proboscis (-- |[pic] | |

|[pic] |( Long ( Short ( Shallow bridge ( High bridge | | |

| |( Short columella ( Alae above tip ( Deep nasal creases | | |

| |( Nasal tip: ( Nares: (-- | | |

| |( Normal (Cupid’s bow (( Corners |[pic] |[pic] |

| |( Open ( Locked ( Smile: | | |

|[pic] |(-- (-- |( Mouth: |( Palate: |

| |Tongue: (Large (Small (: | | |

| |Teeth ( Too few (Small ( Conical/peg | | |

| |( Spacing: (-- | | |

| |Lips: ( Thin: ( Thick: | | |

|[pic][pic]|( Normal neck | [pic] |( Normal jaw |[pic] |

| |( Redundant skin | |( Retrognathia | |

| |( Torticollis: | |( Pointed chin | |

| |( Pits/sinuses: | |( Cleft chin: | |

| |( Masses: | |(-- | |

| |(-- | | | |

| *score as abnormal if divergent from head circumference centiles |

| Dysmorphology exam (continued) Name: BD / / # |

|[pic][pic]|( Normal chest (Small (Broad (-- |( Normal heart (-- |

| |Nipples ( Hypoplastic ( Widely spaced (-- |( Murmur : |

| |Sternum ( Cleft/absent xiphoid ( Short sternum (-- |( Click: ( Rhythm: |

| |Pectus ( Carinatum ( Excavatum (-- |( Pulses: |

| |( Normal abdomen |[pic] |( Normal back |

|[pic] |( Extra skin/prune belly | |( Scoliosis |

|[pic] |( Umbilicus: | |( Kyphosis/gibbus |

| |( Hepatomegaly: FB below LCM | |( Hirsutism |

| |( Splenomegaly: | |( Sacral dimple/sinus |

| |(-- | |(-- |

| |( Normal male genitalia Penis length cm |[pic] |( Normal female genitalia |

|[pic] |Penis ( Large ( Small (-- | |( Virilized: |

| |( Chordee ( Hypospadias ( Epispadias | |( Hypoplastic labia/large clitoris |

| |Scrotum ( Small (-- | |( Vagina: ( Labia: |

| |Testes (Large (Small (-- | |(-- |

|[pic][pic]|( Normal limbs ( Asymmetry: (-- |( Normal joints (-- |

| |Upper limbs ( Short ((Proximal-rhizo (Middle-meso) ( Long |( Lax: |

| |Lower limbs ( Short ((Proximal-rhizo (Middle-meso) ( Long |( Tight: |

| |( Asymmetry: |( Contractures: |

| |Measures: R: L: |( Webs: ( Dimples: |

| |( Normal hands ( Large ( Small ( Broad |[pic] |[pic] |

| |Thumbs ( Broad ( Low placed (-- | | |

| |Fingers ( Broad ( Splayed ( Extra: | | |

|[pic] |( Fused: ( Short metacarpals 4/5 | | |

| |Nails ( Small/absent ( Brittle (-- | | |

|[pic] | | | |

| |( Normal feet ( Large ( Small ( Broad |[pic] |[pic] |

| |Great toes ( Broad ( Deviated (-- | | |

| |Toes ( Broad ( Splayed ( Overlapping: | | |

| |( Fused: (-- | | |

| |Nails ( Small/absent ( Brittle (-- | | |

| |( Normal ( Aged/thin |[pic] | |[pic] |

| |(Hyperelastic ( Lax | | | |

| |( Scaly ( Thick | | | |

| |( Unusual scars: ( | | | |

|[pic] |( Growths/lumps: ( | | | |

| |( Pigmented spots: ( | | | |

| |( Depigmented spots: ( | | | |

| |( Moles/nevi: ( | | | |

| |( Hemangiomas: ( | | | |

| |(-- | | | |

| |( | | | |

| |( Normal ( Cranial nerve defect: |Movements ( Asymmetry: ( Mirror |

|[pic] |( Abnormal reflexes: |( Repetitive: (-- |

| |DTRs ( UE__+ ( LE__ + (-- |Muscles: (( Strength: ( ( Mass: |

| |( Ataxia: ( Poor tandem walk |Tone ( Hypo: ( Hyper: |

| |(-- |( Speech: |

| |( Normal Activity ( Distractable/poor focus ( Hyper |( Self-mutilation: ( Irritable: |

|[pic] |( Autistic: |Affect ( Depressive: ( Happy: |

| |(-- |(-- |

|Major anomalies/medical problems: |

|Minor anomalies ( # ): |

|Principal diagnoses: Labs/referrals: |

| |

|Comments: Signed: |

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