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.

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