Hypertelorism, and Hypoplasia of the maxilla

Diseases related with Hypertelorism and Hypoplasia of the maxilla

In the following list you will find some of the most common rare diseases related to Hypertelorism and Hypoplasia of the maxilla 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

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.

FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE Is also known as scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • High palate
  • Macrocephaly
  • Ventriculomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.

JACKSON-WEISS SYNDROME Is also known as craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|jws

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Ptosis
  • Frontal bossing
  • Midface retrusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACKSON-WEISS SYNDROME

Other less relevant matches:

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

OCULOTRICHOANAL SYNDROME Is also known as mota syndrome|marles syndrome|manitoba oculotrichoanal syndrome|marles-greenberg-persaud syndrome

Related symptoms:

  • Hypertelorism
  • High palate
  • Wide nasal bridge
  • Microphthalmia
  • Narrow mouth


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OCULOTRICHOANAL SYNDROME

Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (OMIM ).

AUTOSOMAL DOMINANT OMODYSPLASIA Is also known as omodysplasia, autosomal dominant

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cryptorchidism
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT OMODYSPLASIA

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

20P12.3 MICRODELETION SYNDROME Is also known as del(20)(p12.3)|monosomy 20p12.3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 20P12.3 MICRODELETION SYNDROME

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Top 5 symptoms//phenotypes associated to Hypertelorism and Hypoplasia of the maxilla

Symptoms // Phenotype % cases
Malar flattening Common - Between 50% and 80% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Mandibular prognathia Uncommon - Between 30% and 50% cases
2-3 toe syndactyly Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Broad hallux phalanx Micrognathia Depressed nasal bridge Wide nasal bridge Narrow mouth Proptosis Craniosynostosis Ventriculomegaly Intellectual disability Downslanted palpebral fissures Short nose Abnormal palate morphology Turricephaly Ptosis Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases

Protruding ear Preaxial foot polydactyly Symphalangism affecting the phalanges of the hand Split foot Hydrocephalus Abnormality of fibula morphology Broad metatarsal Hearing impairment Cleft palate Global developmental delay Sensorineural hearing impairment Abnormal facial shape Short stature Atrial septal defect Epicanthus Blepharophimosis Coloboma Short philtrum Eyelid coloboma Bifid nasal tip Underdeveloped supraorbital ridges Long philtrum Short metatarsal Convex nasal ridge Clinodactyly Syndactyly High palate Macrocephaly Trigonocephaly Brachycephaly High forehead Toe syndactyly Shallow orbits Craniofacial dysostosis Strabismus Scaphocephaly Abnormality of vision Renal dysplasia Choanal atresia Preauricular skin tag Narrow palpebral fissure Median cleft palate Mixed hearing impairment External ear malformation Hypomimic face Secundum atrial septal defect Unilateral cleft lip Renal hypoplasia Bilateral choanal atresia Lower eyelid coloboma Short palpebral fissure Prominent nasal bridge Underdeveloped nasal alae Conductive hearing impairment Wolff-Parkinson-White syndrome Thickened helices Ventricular septal defect Abnormality of metabolism/homeostasis Hernia Inguinal hernia Cleft lip Prominent nose Abnormality of the eye Feeding difficulties in infancy Abnormal cardiac septum morphology Anal atresia Cleft upper lip Thin vermilion border Bifid uvula Bilateral choanal atresia/stenosis Acanthosis nigricans Headache Bowing of the long bones Hip dislocation Joint hypermobility Bulbous nose Recurrent fractures Triangular face Hypotelorism Blue sclerae Large fontanelles Postnatal growth retardation Congenital hip dislocation Cutis laxa Growth abnormality Redundant skin Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Broad forehead Joint laxity Abnormality of the pinna Microcephaly Genu valgum Epidermal acanthosis Full cheeks Broad hallux Anterior plagiocephaly Hallux varus Calcaneonavicular fusion Scoliosis Deeply set eye Growth delay Failure to thrive Intrauterine growth retardation Agenesis of corpus callosum Prominent forehead Osteoporosis Gastroesophageal reflux Osteopenia Broad thumb Short phalanx of finger Pectus carinatum Limited wrist movement Ulnar deviation of finger Abnormality of the wrist Ulnar deviation of the hand Lacrimal duct atresia Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Aplasia/Hypoplasia involving the nose Microphthalmia Narrow face Thin upper lip vermilion Papilledema Corneal opacity Broad nasal tip Ectodermal dysplasia Renal agenesis Amenorrhea Congenital sensorineural hearing impairment Depressed nasal ridge Omphalocele Fingernail dysplasia Open bite Dolichocephaly Upslanted palpebral fissure Intellectual disability, mild Flexion contracture Flat forehead Lambdoidal craniosynostosis Sagittal craniosynostosis Interphalangeal joint contracture of finger Telecanthus Coronal craniosynostosis Camptodactyly of finger Flat face Wide nose High, narrow palate Bilateral sensorineural hearing impairment Primary amenorrhea Abnormality of the hair Microtia Short 1st metacarpal Rhizomelia Disproportionate short-limb short stature Elbow dislocation Bifid scrotum Dislocated radial head Short humerus Patellar dislocation Large forehead Ambiguous genitalia Rhizomelic arm shortening Hypoplastic distal humeri Limited elbow flexion/extension Seizures Muscular hypotonia Dental malocclusion Delayed eruption of teeth Hypoplasia of penis Short palm Anophthalmia Nasolacrimal duct obstruction Anteriorly placed anus Anal stenosis Increased number of teeth Abnormal hair pattern Scotoma Vaginal atresia Broad columella Upper eyelid coloboma Skeletal dysplasia Cryptophthalmos Ablepharon Cryptorchidism Hallux valgus Abnormality of the dentition Hypospadias Severe short stature Micropenis Abnormal glycosylation


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