Abnormality of hand Flashcards
Causes of Polydactyly
- Pre- axial - Acrocephalopolysyndactyly syndrome eg. Noack, Carpenter, Oro-facial- digital syndrome
- Post- axial - Ellis Van Creveld syndrome; Lawrence Moon Biedl syndrome; Trisomy;
Associated with MR, median cleft lip, hydrocephalus and polycystic kidneys
Steps in examination of Polydactyly
- Examine the hand (Pre or post axial Polydactyly, syndactyly, abnormal shape of fingers, nails and simian crease
- Look for short stature in Ellis Van Creveld, Lawrence syndrome and obesity
- Abnormal head shape, dysmorphic features and alopecia
- Chest- Long narrow in Juene’s syndrome
- Abdo ( polycystic kidneys, infantile genitalia in LaweranceMB syndrome
- Assess mentality
Causes of Clinodactyly
- Down’s syndrome.
- Russel Silver syndrome (Dwarfism+ Triangular face + body asymmetry
- Isolated - AD
Causes of Brachydactyly
- Down’s syndrome
- Rubinstein Taybi syndrome (MD + Broad thumbs and toe + odd face + eye: cataract, ptosis, coloboma
- Turner’s syndrome
- Pseudohypoparathyroidism
- Russel- silver syndrome
Causes of Syndactyly
- Acrocephalosyndactyly syndrome (Apert, Carpenter, Pfeiffer syndrome)
- Poland syndrome
- Occulodentodigital syndrome
- De-Lange syndrome
Steps in examination
- Examine the hand
- Examine the head for size, shape, bony ridge over suture lines, fontanelles, protosis
- Examine teeth (Aperts)
- Look for absent pectoralis major (Poland’s syndrome)
- Fundi for optic atrophy in craniosynostosis
Causes of big thumbs
- Rubinstein Taybi Syndrome
- Pfeiffer syndrome
- Noack syndrome
Causse of Triphalangeal Thumb
- Fetal Hydantoin syndrome
- Holt- Oram syndrome
- AASE syndrome ( anemia with some joint and skeletal deformities)
- Diamond Black-Fan syndrome (congenital hypoplastic anaemia)
Causes of short metacarpal
- Pseudohypoparathyroidism
- Turner’s syndrome
- Russel silver syndrome
- Down’s syndrome
- MPS
Causes of Dactylitis
- Sickle cell disease
- TB
- JIA
- Infection
Causes of Radial defect
- Fanconi syndrome
- Thrombocytopenia-absent Radii syndrome (TAR syndrome) - 1/3 with congenital heart condition
- Trisomy Edwards 18 syndrome
- Associated with craniosynostosis
- VATER syndrome
- Holt- Oram syndrome
- AASE syndrome
Steps in examination
- Look for short stature, hirsutism, abnormal head shape, and dysmorphic face
- Hands for absent thumb, trisomy hands, triphalangeal thumb
- Skin for petechiae, pallor, pigmentation
- CVS - ASD
- Mental retardation
Causes of Hyperextensibility of joints
- Passive dorsiflexion and hyperextension of the fifth MCP joint beyond 90° 1 1
- Passive apposition of the thumb to the flexor aspect of the forearm 1 1
- Passive hyperextension of the elbow beyond 10° 1 1
- Passive hyperextension of the knee beyond 10° 1 1
- Active forward flexion of the trunk with the knees fully extended so that the palms of the hands rest flat on the floor 1
TOTAL > 4 / 9 is considered hypermobile
Causes of subcutaneous Calcifications
- Pseudohypoparathyroidism
- Dermatomyositis, Scleroderma
- Ehler Danlos syndrome
- Myositis ossificans progressive
- Cysticerosis
- Hypercalcaemia –> metastatic calcification
Acrocephalosyndactyly
Apert’s
1. AD, Abnormal face with proptosis, strabismus, cleft palate, congenital heart disease, anal atresia, severe syndactyly
Pfeiffer
- AD
- Marked broad and short thumb and toes
- Marked syndactyly
Acrocephalopolysyndactyly
Noack
- AD
- Mark broad and short thumb and toes
- Enlarged thumb and toes
Carpenter
- AR
- MD
- Brachydactyly
Polland syndrome
- Absent pectoralis minor and major; 75% on the right.
- Ipsilateral syndactyly, brachydactyly, occ with sprengel shoulder;
- Renal abnormality with hemivertebra
Lawrence Moon Biedl syndrome
- AR with variable penetrance and expressivity with failure of pituitary gonadotrophin stimulation
- Features: Obesity, short statue, MD, polydactyly, hypogonadism (in 42% with uni/bilateral undesended testis)
- Retinitis pigmentosa
- Male > Female
Oto-palato-digital syndrome
- Conductive deafness; Cleft palate, short, broad distal phalanges of toes and thumb, small nail, syndactyly, fusion of 3rd, 4th and 5th MCP
- Short stature
- Skeletal abnormality (pes excavatum, limit elbow extension, skull - frontal and occipital bossing, facial hypertelorism, no frontal and splenoid sinus, SXR - thick frontal and basal bones, spine - neural arch fusion defect, small iliac crest
- Mental retardation
Orofacial digital syndrome
- Cleft lip and palate, enamel hypoplasia
- Facial - frontal bossing, hypertelorism, flat nose
- Digital - Syndactyly, clinodactyly, polydactyly, all are symmetrical
- MR
- Hydrocephalus, seizure, brain malformation (20% cases)
- Skeletal - Metaphyseal rarefaction
- Skin - alopecia, seborrhoeic skin
- Polycystic kidney
- Male> female (2:1)
Holt Oram syndrome
AD with variable expression;
Features:
1. CVS: ASD, VSD, cardiac arrhythmia, occ PDA, PS;
2. Skeletal - defect of upper limbs of all kind (triphalangeal thumb, absent thumb, phocomelia, syndactyly, absent radius, defect of shoulder girdle: narrow shoulder. Occ vertebral abnormality
AASE syndrome
- Radial defect, Triphalangeal thumb
- Congenital anaemia
- Cardiac - VSD
- Hepatosplenomegaly
Ehler Danlos syndrome
Familial / AD
Features:
1. Slim, short and kyphoscoliosis
2. Skin - cutaneous hyperelasticity, fragile skin and blood vessels – easy bruise, atrophy scar and pseudotumors
3. Face: broad nasal bridge with hypertelorism and epicathic folds
4. Dental: Small, irregular or missing teeth
5. Skeletal: Delayed ossification, habitual joint dislocation, pes plancus, Haemarthrosis
6. Delayed development
VATERL syndrome
“VACTERL” syndrome
- Vertebral anomaly
- Anal atresia
- Tracheal oesophageal fistula
- Oesophageal atresia
- Renal abnormality
- Cardiac disease
- Limb abnormality
