Hypertelorism, and Hypodontia

Diseases related with Hypertelorism and Hypodontia

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

Top matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Wide nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA Is also known as microdontia-type i microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with lamm|lamm syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA

Other less relevant matches:

Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

AXENFELD-RIEGER SYNDROME Is also known as axenfeld syndrome|anterior chamber cleavage syndrome|rieger syndrome, type 3|rieger syndrome|axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AXENFELD-RIEGER SYNDROME

Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

High match CHAR SYNDROME

Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Top 5 symptoms//phenotypes associated to Hypertelorism and Hypodontia

Symptoms // Phenotype % cases
Wide nasal bridge Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Clinodactyly Intellectual disability Sensorineural hearing impairment Microdontia Everted lower lip vermilion Telecanthus Patent ductus arteriosus Myopia Hypospadias Hernia Abnormality of cardiovascular system morphology Abnormality of the dentition Long philtrum Thin upper lip vermilion Anteverted nares Abnormal facial shape Low-set ears Anal atresia Oligodontia Reduced number of teeth Strabismus Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Hypoplasia of dental enamel Oral cleft High palate Midface retrusion Malar flattening Dysphagia Choanal atresia Bilateral cleft lip Smooth philtrum Atrial septal defect Craniosynostosis Cleft upper lip Bilateral cleft lip and palate Inguinal hernia Short philtrum Pectus excavatum Ventricular septal defect Upslanted palpebral fissure Blindness Agenesis of corpus callosum Hypoplasia of the iris Cleft palate Posteriorly rotated ears Kyphosis Intellectual disability, mild Respiratory insufficiency Neoplasm Short stature Rieger anomaly Cryptorchidism Abnormal heart morphology Aniridia Anal stenosis Congenital diaphragmatic hernia Hypoplasia of the maxilla High forehead Conductive hearing impairment Glaucoma Prominent forehead Cleft lip Posterior embryotoxon Mandibular prognathia Prominent nose Conical tooth Ectodermal dysplasia Micrognathia Thin eyebrow Thick vermilion border Increased number of teeth Epicanthus Delayed ability to walk Umbilical hernia Confusion Hydrocephalus Visual loss Growth hormone deficiency Abnormality of the skeletal system Muscle weakness Microcornea Myotonia Slurred speech Prominent supraorbital ridges Multiple rows of eyelashes Abnormality of dental morphology Megalocornea Anterior synechiae of the anterior chamber Abnormality of the abdominal wall Polycoria Bilateral choanal atresia Axenfeld anomaly Abnormally prominent line of Schwalbe Scoliosis Ectropion of lower eyelids Euryblepharon Overfolded helix Sparse hair Finger syndactyly Carious teeth Agenesis of permanent teeth Flat face Small nail Sparse eyelashes Opacification of the corneal stroma Cutaneous syndactyly Abnormality of vision Ectropion Vertebral fusion Dermoid cyst Low anterior hairline Abnormal eyelid morphology Myelomeningocele High anterior hairline Abnormal hair quantity Distichiasis Unilateral cleft lip Epidermoid cyst Meningoencephalocele Thyroid agenesis Wide nose Ptosis Short nose Congestive heart failure Aspiration pneumonia Pneumonia Gastroesophageal reflux Pectus carinatum Intestinal malrotation Ambiguous genitalia Recurrent urinary tract infections Large fontanelles Aspiration Abnormality of the voice Prominent metopic ridge Double outlet right ventricle Hydrocele testis Distal/middle symphalangism of 5th finger Widow's peak Pulmonary artery atresia Volvulus Abnormality of the pharynx Chylothorax Right aortic arch Abnormality of the nasopharynx Intestinal lymphangiectasia Bladder exstrophy Recurrent aspiration pneumonia Exstrophy Osteoma Frontal bossing Mesoaxial foot polydactyly Abnormality of the pinna Depressed nasal ridge Clinodactyly of the 5th finger Polydactyly Protruding ear Broad forehead Toe syndactyly Thick eyebrow Highly arched eyebrow Sleep disturbance Broad nasal tip Premature birth Coarctation of aorta Finger clinodactyly Symphalangism of the 5th finger Bicuspid aortic valve Coarse hair Hand polydactyly Supernumerary nipple Prominent occiput Short middle phalanx of the 5th finger Persistence of primary teeth Triangular mouth Mesoaxial hand polydactyly No permanent dentition Parasomnia Muscular ventricular septal defect Abnormality of the eye Hypothyroidism Microtia Seizures Moderate global developmental delay Long toe Hypochromic anemia Short 2nd finger Growth delay Failure to thrive Delayed speech and language development Feeding difficulties Spasticity Microcephaly Generalized hypotonia Absent stapes Down-sloping shoulders Aplasia of the inner ear Proptosis Cochlear aplasia Abnormal cardiac septum morphology Microtia, first degree Profound sensorineural hearing impairment Anteverted ears Bilateral sensorineural hearing impairment Cerebellar vermis hypoplasia Redundant skin Abnormal cranial nerve morphology Sparse lateral eyebrow Hypoparathyroidism Arachnoid cyst Osteopenia Eosinophilia Narrow palpebral fissure Short palpebral fissure Hypsarrhythmia Asthma Unsteady gait Hypermetropia Attention deficit hyperactivity disorder Anxiety Narrow mouth Brachycephaly Developmental regression Microcytic anemia Wide mouth Hyperactivity Recurrent infections Tapered finger Dental malocclusion Webbed neck Hip dysplasia High myopia Low posterior hairline Mitral regurgitation Immunodeficiency Preauricular skin tag Skin tags Ectopia pupillae Synophrys Delayed ossification of carpal bones Metaphyseal widening Metaphyseal irregularity Rocker bottom foot Flared metaphysis Short finger Disproportionate short stature Metaphyseal dysplasia Thoracic kyphosis Ovoid vertebral bodies Hypoplastic ilia Small epiphyses Hypoplasia of the capital femoral epiphysis Aortic valve stenosis Shallow acetabular fossae J-shaped sella turcica Atlantoaxial dislocation Broad phalanx Cervical cord compression Cervical subluxation Hypoplastic iliac body Tall stature Underdeveloped nasal alae Long face Myopathic facies Elbow flexion contracture Short toe Concave nasal ridge Flexion contracture Peters anomaly Anterior segment developmental abnormality Abnormality of the hypothalamus-pituitary axis Abnormal anterior chamber morphology Aplasia/Hypoplasia of the iris Ureteral stenosis Hypoplastic iris stroma Retinal vein occlusion High hypermetropia Congenital sensorineural hearing impairment Anemia Brachydactyly Rhizomelia Short neck Delayed gross motor development Abnormality of the outer ear Widely spaced teeth Pointed chin Kyphoscoliosis Hyperlordosis Platyspondyly Hypotrichosis Tetraplegia Hypotelorism Lumbar hyperlordosis Posterior pharyngeal cleft


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