Hypertelorism, and Dental malocclusion

Diseases related with Hypertelorism and Dental malocclusion

In the following list you will find some of the most common rare diseases related to Hypertelorism and Dental malocclusion that can help you solving undiagnosed cases.

Top matches:

Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.

CRANIOSYNOSTOSIS-DENTAL ANOMALIES Is also known as kreiborg-pakistani syndrome

Related symptoms:

  • Hypertelorism
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion
  • Clinodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS-DENTAL ANOMALIES

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Other less relevant matches:

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.

ENDOSTEAL HYPEROSTOSIS, WORTH TYPE Is also known as ostÉosclÉrose autosomique dominante type worth|osteosclerosis, autosomal dominant|autosomal dominant osteosclerosis, worth type|hyperostosis corticalis generalisata, benign form of worth, with torus palatinus|worth syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL HYPEROSTOSIS, WORTH TYPE

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

High match SCLEROSTEOSIS

Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Top 5 symptoms//phenotypes associated to Hypertelorism and Dental malocclusion

Symptoms // Phenotype % cases
Wide nasal bridge Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Mandibular prognathia Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Dental malocclusion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Proptosis Macrocephaly Intellectual disability Micrognathia Frontal bossing Abnormal facial shape Short stature Overgrowth Facial palsy Anteverted nares Increased intracranial pressure Depressed nasal bridge Epicanthus Ptosis Low-set ears Hyperostosis Cryptorchidism Syndactyly Wide mouth Abnormality of the dentition Increased bone mineral density

Rare Symptoms - Less than 30% cases

Downslanted palpebral fissures Conductive hearing impairment Microcephaly Brachydactyly Diaphyseal thickening Hydrocephalus Generalized osteosclerosis Craniofacial hyperostosis Short nose Abnormal cortical bone morphology Thin upper lip vermilion Cleft lip Abnormal cranial nerve morphology Umbilical hernia Short neck Abnormality of pelvic girdle bone morphology Micropenis Hernia Depressed nasal tip Malar flattening Nystagmus Sparse eyebrow Sparse and thin eyebrow Thick lower lip vermilion Wide intermamillary distance Hypoplastic nipples Global developmental delay Telecanthus Abnormality of the skeletal system Delayed eruption of teeth Flat forehead Fingernail dysplasia Nail dysplasia High palate Short phalanx of finger Sclerotic vertebral endplates Clinodactyly Hirsutism Limb undergrowth Atresia of the external auditory canal Redundant skin Ectropion Cupped ear Aplasia/Hypoplasia of the eyebrow Gingival overgrowth Dental crowding Broad thumb Microtia Aplasia/Hypoplasia of the skin Long nose Hyperextensible skin Otitis media Shawl scrotum Inverted nipples Taurodontia Skin tags Absent nipple Short distal phalanx of finger Abnormality of the pinna Camptodactyly Dermal atrophy Cutis laxa High, narrow palate Hypertrichosis Triangular face Ectodermal dysplasia Underdeveloped nasal alae Narrow nasal tip Abnormality of the skin Mesomelic short stature Bulbous nose Triangular mouth Microdontia Thin vermilion border Dry skin Oligodontia Depressed nasal ridge Abnormality of the genital system Narrow naris Abnormality of the face Thickened calvaria Low anterior hairline Generalized hirsutism Gingival fibromatosis Mesomelia Chronic otitis media Broad ribs Sparse or absent eyelashes Skeletal dysplasia Chordee Bifid scrotum Congenital sensorineural hearing impairment Telangiectasia of the skin Sclerotic scapulae 2-3 finger syndactyly Trigeminal neuralgia Broad clavicles Esodeviation Deviation of finger Aplasia/Hypoplasia of the nipples Abnormality of the nose Strabismus Curved distal phalanges of the hand Cognitive impairment Optic atrophy Headache Visual loss Hyperactivity Paralysis Finger syndactyly Esotropia Tall stature Cutaneous syndactyly Anosmia Abnormal dermatoglyphics Facial palsy secondary to cranial hyperostosis Constriction of peripheral visual field Renal insufficiency Breast aplasia Broad alveolar ridges Generalized hypertrichosis Abnormality of female external genitalia Mild hearing impairment Frontal hirsutism Ablepharon Abnormality of male external genitalia Cataract Myopia Intellectual disability, severe High forehead Renal dysplasia Severe short stature Long philtrum Hypothyroidism Cortically dense long tubular bones Proteinuria Intellectual disability, moderate Blepharophimosis Stage 5 chronic kidney disease Everted lower lip vermilion Hypoplasia of penis Pancytopenia Renal hypoplasia Telangiectasia Hypertension Rigidity Multiple joint contractures Respiratory tract infection Arthrogryposis multiplex congenita Long face Falls Generalized muscle weakness Decreased fetal movement Frequent falls Narrow palpebral fissure Easy fatigability Poor suck Gowers sign Prominent occiput Neonatal hypotonia Weak cry Fatigable weakness Seizures Microphthalmia Agenesis of corpus callosum Upslanted palpebral fissure Macrotia Protruding ear Broad forehead Smooth philtrum Oral cleft Iris coloboma Apnea Respiratory distress Prominent nose Coronal craniosynostosis Brachycephaly Craniosynostosis Hypoplasia of the maxilla Trigonocephaly 2-3 toe syndactyly Hallux valgus Scotoma Increased number of teeth Scaphocephaly Papilledema Turricephaly Sagittal craniosynostosis Respiratory insufficiency Lambdoidal craniosynostosis Gait disturbance Gait ataxia Facial asymmetry Small nail Tetraparesis Short finger Cutaneous finger syndactyly Generalized hypotonia Muscle weakness Flexion contracture Feeding difficulties Highly arched eyebrow Hypotelorism Hypospadias Osteomyelitis Abnormality of coagulation Prolonged bleeding time Curly hair Blue irides High anterior hairline Pectus excavatum of inferior sternum Abnormality of the ribs Abnormal form of the vertebral bodies Cranial nerve paralysis Growth abnormality Elevated alkaline phosphatase Osteopetrosis Cubitus valgus Nasal obstruction Thickened cortex of long bones Increased head circumference Torus palatinus Clavicular sclerosis Sclerotic vertebral body Metacarpal diaphyseal endosteal sclerosis Metatarsal diaphyseal endosteal sclerosis Growth delay Failure to thrive Cleft palate Talipes equinovarus Bilateral cryptorchidism Webbed neck Omphalocele Parietal bossing Holoprosencephaly Flat occiput Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Semilobar holoprosencephaly Pulmonic stenosis Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Scoliosis Ventricular septal defect Atrial septal defect Posteriorly rotated ears Polyhydramnios Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Otitis media with effusion


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