Hypertelorism, and Brachycephaly

Diseases related with Hypertelorism and Brachycephaly

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

Top matches:

Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.

ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Brachydactyly
  • Midface retrusion


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED BRACHYCEPHALY

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

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

Other less relevant matches:

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

Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Depressed nasal bridge
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about PARIETAL FORAMINA 2; PFM2

INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

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:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Brachycephaly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Proptosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Craniosynostosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Low-set ears Ptosis Microcephaly High forehead Growth delay Midface retrusion

Rare Symptoms - Less than 30% cases

Abnormal facial shape Strabismus Autism Broad nasal tip Motor delay High palate Increased intracranial pressure Seizures Muscular hypotonia Optic atrophy Broad forehead Delayed speech and language development Low anterior hairline Syndactyly Narrow palate Depressed nasal bridge Broad thumb Thin upper lip vermilion Intellectual disability, mild Upslanted palpebral fissure Smooth philtrum Short neck Synophrys Long face Brachydactyly Turricephaly Hyperactivity Mild microcephaly Bruxism Unilateral cleft lip Abnormality of the cerebellar vermis Overweight Horizontal eyebrow Obesity Intellectual disability, severe Hypoplasia of the corpus callosum Neonatal hypotonia Febrile seizures Slender finger Truncal obesity Developmental regression Severe muscular hypotonia Short philtrum Abnormality of the cerebral white matter Cleft upper lip Downturned corners of mouth Progressive microcephaly Round face Postnatal microcephaly Hypotelorism Cleft lip Achromatopsia Pain Thin vermilion border Long philtrum Delayed skeletal maturation Reduced visual acuity Postnatal growth retardation Hypermetropia Facial asymmetry Micromelia Thick eyebrow Myopia Small hand Single transverse palmar crease Progressive visual loss Narrow forehead Fine hair Sandal gap Cutis laxa Dyschromatopsia Blindness Prominent glabella Intrauterine growth retardation Everted lower lip vermilion Tremor Elevated serum creatine phosphokinase Abnormality of the nervous system Autistic behavior Wide mouth Unsteady gait Wide nose Prominent nose Epicanthus Intention tremor Frequent falls Hyposegmentation of neutrophil nuclei Blue cone monochromacy Cupped ear Mildly elevated creatine phosphokinase Impaired social interactions Short stature Falls Dolichocephaly Wide nasal bridge Increased bone mineral density Lambdoidal craniosynostosis Flat forehead Visual impairment Macrocephaly Headache Facial palsy Thickened calvaria Sagittal craniosynostosis Mild global developmental delay Broad jaw Scoliosis Sensorineural hearing impairment Ventriculomegaly Cerebellar atrophy Fingernail dysplasia Coronal craniosynostosis Dandy-Walker malformation Dental malocclusion Underdeveloped supraorbital ridges Metacarpal synostosis Abnormality of the dentition Clinodactyly Delayed eruption of teeth Hypoplasia of the maxilla Short phalanx of finger Papilledema Trigonocephaly 2-3 toe syndactyly Hallux valgus Scotoma Increased number of teeth Scaphocephaly Agenesis of corpus callosum Spina bifida Bicoronal synostosis Toe syndactyly Attention deficit hyperactivity disorder Dental crowding Cafe-au-lait spot Pointed chin Short nose Finger syndactyly Short palm Absent speech Short foot Aplasia/Hypoplasia of the thumb Short hallux Broad hallux phalanx Aqueductal stenosis Hallux varus EEG abnormality Downslanted palpebral fissures Spina bifida occulta Sparse eyebrow Plagiocephaly Delayed cranial suture closure Anterior plagiocephaly Cryptorchidism Alopecia Encephalocele Bilateral cryptorchidism Symmetrical, oval parietal bone defects Depressed nasal tip Broad columella Diastema Aplasia cutis congenita of scalp Parietal foramina Wide nasal ridge Nonprogressive visual loss


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