From: Non-syndromic occurrence of true generalized microdontia with mandibular mesiodens - a rare case
Taurodontism, microdontia, and dens invaginatus | Cleidocranial dysplasia | Craniometadiaphyseal dysplasia | Dermoodontodysplasia | Hypodontia and nail dysgenesis | Orofaciodigital syndrome type 3 | Tricho-rhino-phalangeal syndrome type 1 | Distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, narrowed zygomatic arch |
---|---|---|---|---|---|---|---|
Generalized microdontia | Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal dominant |
Taurodontism of first permanent molars | Chromosome 6 | Macrocephaly | Dry skin | Chromosome 4 | Thin/hyperconvex/hypoplastic nails | Autosomal recessive | Absent/small nails |
Multiple teeth with one or more dens invaginatus | Arm p | Frontal bossing | Ichthyosis | Arm p | Prominent occiput | Chromosome 8 | Microdontia |
X-linked recessive inheritance | Normal height (with skeletal dysplasia) | Large fontanelle | Thin skin | Dry skin | Frontal bossing | Arm q | Other dental abnormality |
Short stature - postnatal | Prominent eyes | Pigmented naevi | Fine hair | Round face | Normal height (with skeletal dysplasia) | Abnormal clinical features of the limbs | |
Absent/small nails | Mandibular hyperostosis/sclerosis | Abnormal hair texture | Brittle hair/trichorrhexis nodosa/pili torti | Hypertelorism | Short stature - postnatal | Brachydactyly | |
Macrocephaly | Optic nerve abnormality/atrophy | Sparse/absent scalp hair - localised | Sparse/absent scalp hair - generalised | Down-slanting palpebral fissures | Decreased body hair/hypotrichosis | Irregularities of length/shape of fingers | |
Flat occiput (brachycephaly) | Microdontia | Abnormal nails | Absent/small nails | Other orbital abnormality | Decreased hair pigmentation - general | Syndactyly of fingers | |
Frontal bossing | Abnormal tooth position/malocclusion/open bite | Midface hypoplasia/flat/short midface | Thin/hyperconvex/hypoplastic nails | Paresis of ocular muscles/squint | Decreased hair pigmentation - patchy | Short foot (including brachydactyly) | |
Wide sutures/delayed fusion of sutures | Missing permanent teeth/retained deciduous teeth | Micrognathia/agnathia/retrognathia | Dysplastic/grooved/thick/discoloured nails | Other eye movement disorder | Fine hair | Syndactyly (other than minimal 2nd and 3rd toes) | |
Large fontanelle | Anodontia/oligodontia | Microdontia | Depressed premaxillary region | Broad/bulbous nasal tip | Brittle hair/trichorrhexis nodosa/pili torti | Irregular length or shape of toes | |
Facies significantly abnormal | Natal/neonatal teeth | Anodontia/oligodontia | Midface hypoplasia/flat/short midface | Cleft soft palate/bifid uvula/submucous cleft | Sparse/absent scalp hair - generalised | Other skull abnormality | |
Small face | Supernumerary teeth | Supernumerary teeth | Micrognathia/agnathia/retrognathia | Microdontia | High hairline - front | Absent/small/hypoplastic carpals | |
Hypertelorism | Dental caries | Other dental abnormality | Absent/decreased eyebrows/lateral thinning | Abnormal tooth position/malocclusion/open bite | Thin/hyperconvex/hypoplastic nails | Symphalangism | |
Prominent supraorbital ridges | Low set ears | Simian creases | Absent/decreased lashes | Supernumerary teeth | Dysplastic/grooved/thick/discoloured nails | Cone shaped epiphyses | |
Depressed premaxillary region | Scoliosis | Dislocated hip | Everted/protruding lips | Cleft/notched tongue | Broad/bifid nails | Symphalangism | |
Midface hypoplasia/flat/short midface | Bowed limbs | Tooth crown shape abnormality | Hamartoma/other tumours of the mouth | Frontal bossing | Cone-shaped epiphyses of middle phalanges | ||
Prognathism | Mental retardation of any degree | Microdontia | Other abnormality of tongue/gingivae/mucosa | High forehead | |||
Depressed nasal bridge | Boney sclerosis of any type | Abnormal tooth position/malocclusion/open bite | Low set ears | Facies significantly abnormal | |||
Paramedian/lateral cleft lip (uni/bilateral) | Multiple fractures/increased boney fragility | Delayed eruption of teeth | Tragus abnormal | Long face | |||
Cleft soft palate/bifid uvula/submucous cleft | Enchondroma/radiolucencies - localized | Anodontia/oligodontia | Pectus excavatum (funnel chest) | Grooved/dimpled chin | |||
High vaulted and narrow palate | Lytic/lucent lesions of bone | Supernumerary teeth | Abnormally placed nipples | Micrognathia/agnathia/retrognathia | |||
Microdontia | Fibrous dysplasia of bone | Thoracolumbar general kyphosis | Medial flare of eyebrows | ||||
Developmental defect of enamel | Wide diaphyses (undertubulation) | Irregularities of length/shape of fingers | Absent/decreased eyebrows/lateral thinning | ||||
Tooth discolouration | Submetaphyseal undermodelling/expansion | Syndactyly of fingers | Absent/decreased lashes | ||||
Delayed eruption of teeth | Thin cortex of diaphyses | Polydactyly - postaxial (ulnar)/type unspecified | Long/large nose | ||||
Missing permanent teeth/retained deciduous teeth | Bowing of long bones | Abnormal palmar dermatoglyphics/skin creases | Broad nasal bridge (see telecanthus) | ||||
Supernumerary teeth | Cartilage tongues of metaphyses - localized | Polydactyly of feet - postaxial/type unspecified | High nasal bridge | ||||
Dental cysts/tumours | Hyperostosis/thickened/sclerotic calvarium | Syndactyly (other than minimal 2nd and 3rd toes) | Broad/bulbous nasal tip | ||||
Deafness - conductive | Absent/abnormal sinuses | Cranial nerve/nuclei | Hypoplastic/small nostrils | ||||
Other hearing abnormality | Wormian bones | Mental retardation - moderate/severe | Abnormal columella | ||||
Narrow/sloping shoulder/hypermobile shoulders | Sclerotic/hyperostotic facial bones | Hypotonia | Thin lips | ||||
Pectus excavatum (funnel chest) | Other skull abnormality | Movement disorder - dystonia/chorea/tremor/spasm | Long philtrum | ||||
Bell-shaped chest | Hyperostotic/wide clavicle | EEG abnormality | Deeply grooved philtrum | ||||
Thoracolumbar general kyphosis | Abnormal rib structure including fusion | Short sternum | Microdontia | ||||
Gibbus/localised kyphosis | Widened ribs | Abnormal tooth position/malocclusion/open bite | |||||
Scoliosis | Irregular shape of pubic and ischial bones | Supernumerary teeth | |||||
Hyperextensible/hypermobile joints | Absent/hypoplastic/short femur | Anteverted/prominent/bat ears | |||||
Small hand | Femora short/deformed/bowed | Long/large ear | |||||
Brachydactyly | Other abnormal femur | Pectus carinatum (pigeon chest) | |||||
Seizures of any type | Bow legs - genu varum | Thoracolumbar general kyphosis | |||||
Hypotonia | Scoliosis | ||||||
Imperforate anus/anal stenosis | Hyperextensible/hypermobile joints | ||||||
Horseshoe/fused/ectopic kidneys | Small hand | ||||||
Hypospadias/epispadias | Brachydactyly | ||||||
Undescended/ectopic testes | Clinodactyly of 5th finger | ||||||
Wilms tumour | Terminal hypoplasia fingers | ||||||
Delayed skeletal maturation | Spindle shaped/tapered fingers | ||||||
Poorly ossified calvarium/Soft skull | Ulnar deviation of fingers | ||||||
Absent/abnormal sinuses | Other hand abnormality | ||||||
Wormian bones | Mental retardation of any degree | ||||||
Platybasia/basilar impression | Abnormal cardiovascular structure/function | ||||||
Enlarged foramen magnum | Winged/other abnormal scapula (See Shoulder) | ||||||
Small/absent scapula | Coxa vara | ||||||
Winged/other abnormal scapula (See Shoulder) | Cone shaped epiphyses | ||||||
Absent/hypoplastic clavicles | Small femoral head epiphyses | ||||||
Pseudarthrosis of clavicle | Flat femoral head epiphyses | ||||||
Short ribs (circumferential) | Deformed/irregular femoral head epiphyses | ||||||
Under-/unossified sternum | Broad femoral neck | ||||||
Hypoplastic/absent ribs | Cone-shaped epiphyses of proximal phalanges | ||||||
Dorsal wedging of vertebral bodies | Some phalanges short and deformed | ||||||
Narrow/trapezoid iliac wings (lack of flare) | Cone-shaped epiphyses of middle phalanges | ||||||
Horizontal/flat acetabular roof | Cone-shaped epiphyses of distal phalanges | ||||||
Delayed ossification of pubic and ischial bones | |||||||
Open pubic symphysis in adults | |||||||
Coxa valga | |||||||
Coxa vara | |||||||
Dislocated hip | |||||||
Cone shaped epiphyses | |||||||
Fibulae a-/hypoplastic/under-/unossified | |||||||
Cone-shaped epiphyses of proximal phalanges | |||||||
Cone-shaped epiphyses of middle phalanges | |||||||
All middle phalanges short/deformed | |||||||
Cone-shaped epiphyses of distal phalanges | |||||||
All distal phalanges short/deformed |