Table 3 Comparison of conditions associated with the simultaneous presence of microdontia and supernumery teeth along with taurodontism, microdontia, and dens invaginatus as well as distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, narrowed zygomatic arch.
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 |
