Hypertelorism, and Craniosynostosis

Diseases related with Hypertelorism and Craniosynostosis

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

Top matches:

Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011).For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 (OMIM ).A syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see {158170}).

TRIGONOCEPHALY 2; TRIGNO2 Is also known as craniosynostosis, metopic

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Craniosynostosis
  • Trigonocephaly
  • Metopic synostosis


SOURCES: OMIM MENDELIAN

More info about TRIGONOCEPHALY 2; TRIGNO2

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

Other less relevant matches:

This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Visual impairment
  • Macrocephaly
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.

PFEIFFER SYNDROME TYPE 1 Is also known as classic pfeiffer syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Low-set ears
  • High palate
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 1

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Craniosynostosis

Symptoms // Phenotype % cases
Brachycephaly Common - Between 50% and 80% cases
Proptosis Uncommon - Between 30% and 50% cases
Trigonocephaly Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Turricephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

High forehead Macrocephaly Ventriculomegaly Downslanted palpebral fissures Coronal craniosynostosis Frontal bossing Scaphocephaly Intellectual disability High palate Depressed nasal bridge Low-set ears Abnormality of the dentition Strabismus

Rare Symptoms - Less than 30% cases

Broad hallux phalanx Toe syndactyly Short nose Delayed cranial suture closure Global developmental delay Upslanted palpebral fissure Intellectual disability, mild Hearing impairment Microcephaly Agenesis of corpus callosum Short stature Oligohydramnios Recurrent fractures Hypoplasia of the maxilla Dandy-Walker malformation Anteverted nares Lambdoidal craniosynostosis Cryptorchidism Microphthalmia Agenesis of cerebellar vermis Broad philtrum Conical tooth High pitched voice Calvarial skull defect Scrotal hypoplasia Thin ribs Decreased skull ossification Nystagmus Encephalocele Fine hair Intrauterine growth retardation Intellectual disability, moderate Narrow iliac wings Telecanthus Fractures of the long bones Hypogonadism Alopecia Underdeveloped nasal alae Arachnodactyly Bifid nose Hematuria Epicanthus Ventricular septal defect Prominent forehead Proteinuria Abnormality of the kidney Sparse hair Ectodermal dysplasia Micrognathia Cerebellar vermis hypoplasia Sparse eyelashes Sparse eyebrow Nephritis Hypoplastic toenails Tubulointerstitial nephritis Cognitive impairment Elbow ankylosis Cleft palate Narrow chest Long philtrum Abnormality of cardiovascular system morphology Narrow mouth Low-set, posteriorly rotated ears Joint stiffness Camptodactyly of finger Talipes Narrow pelvis bone Microretrognathia Abnormality of the ribs Choanal atresia Femoral bowing Underdeveloped supraorbital ridges Hypoplasia of the zygomatic bone Abnormal renal morphology Reduced bone mineral density Hallux varus Wormian bones Flat forehead Increased intracranial pressure Increased bone mineral density Broad forehead Facial palsy Headache Optic atrophy Visual impairment Craniofacial dysostosis Shallow orbits Open bite Dolichocephaly Mandibular prognathia Fingernail dysplasia Mild global developmental delay Sagittal craniosynostosis Papilledema Increased number of teeth Scotoma Hallux valgus 2-3 toe syndactyly Short phalanx of finger Dental malocclusion Delayed eruption of teeth Clinodactyly Syndactyly Metopic synostosis Thickened calvaria Broad jaw Blue sclerae Aplasia/Hypoplasia of the thumb Triangular face Platyspondyly Postnatal growth retardation Retrognathia Osteopenia Pectus excavatum Kyphosis Hydrocephalus Motor delay Bicoronal synostosis Aqueductal stenosis Short hallux Broad thumb Generalized hypotonia Short foot Short palm Finger syndactyly Anterior plagiocephaly Plagiocephaly Spina bifida occulta Spina bifida Low anterior hairline Cerebellar atrophy Ptosis Muscular hypotonia Sensorineural hearing impairment Scoliosis Posterior fossa cyst


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