Frontal bossing, and Telecanthus

Diseases related with Frontal bossing and Telecanthus

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

Top matches:

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

High match GORLIN SYNDROME

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Other less relevant matches:

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

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION SYNDROME

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Telecanthus

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Telecanthus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Brachydactyly Hydrocephalus Global developmental delay Upslanted palpebral fissure Proptosis Cryptorchidism Abnormal facial shape High forehead Short stature Strabismus Intellectual disability Brachycephaly Scoliosis Midface retrusion Epicanthus Low-set ears

Rare Symptoms - Less than 30% cases

Agenesis of corpus callosum Prominent forehead Fine hair High palate Arachnodactyly Muscular hypotonia Wide nasal bridge Generalized hypotonia Delayed speech and language development Postaxial polydactyly Long philtrum Narrow mouth Protruding ear Blue sclerae Mitral regurgitation Postaxial hand polydactyly Hearing impairment Patent foramen ovale Ventriculomegaly Craniosynostosis Polydactyly Ventricular septal defect Kyphosis Short nose Downturned corners of mouth Abnormal cardiac septum morphology Intellectual disability, severe Motor delay Growth delay Cataract Microcephaly Talipes equinovarus Microphthalmia Talipes Sparse hair Seizures Cleft palate Bilateral talipes equinovarus Fragile skin Facial hypotonia Thoracic scoliosis Hypoplasia of the musculature Long palpebral fissure Large for gestational age Infantile spasms Short neck Cortical dysplasia Hyperextensible skin Clinodactyly Patent ductus arteriosus Cleft lip Dental malocclusion Megalencephaly Abnormally large globe Adducted thumb Joint hypermobility Vascular ring Cerebral atrophy Hernia Inguinal hernia Arthralgia Myalgia Camptodactyly Capillary malformation Scarring Bruising susceptibility Broad thumb Generalized muscle weakness Mitral valve prolapse Abnormal nasal morphology Cavum septum pellucidum Dental crowding Abnormal localization of kidney Joint dislocation Dilation of lateral ventricles Delayed gross motor development Webbed neck Gingival overgrowth Long eyelashes Lambdoidal craniosynostosis Atrial septal defect Optic nerve hypoplasia Flat occiput External ear malformation Arnold-Chiari type I malformation Anterior plagiocephaly Stomatocytosis Dimple chin Craniofacial dysostosis Myopathy Ectopic posterior pituitary Prominent scalp veins Round ear Hypoplasia of the corpus callosum Diminished ability to concentrate Pansynostosis Posterior plagiocephaly Skeletal muscle atrophy Visual impairment Increased intracranial pressure Microretrognathia Short phalanx of finger Pulmonary artery atresia Ptosis Tricuspid regurgitation Knee flexion contracture Pachygyria Intellectual disability, profound Polymicrogyria Mesomelia Agenesis of permanent teeth Anteriorly placed anus Hypoplastic right heart Small hand Spasticity Hypertonia Malar flattening Muscular hypotonia of the trunk Retrognathia Blepharophimosis Facial asymmetry Absent speech Blindness Plagiocephaly Ectodermal dysplasia Downslanted palpebral fissures Abnormality of the neck Glaucoma Mandibular prognathia Carious teeth Iris coloboma Cerebral calcification Hypogonadotrophic hypogonadism Hemivertebrae Melanocytic nevus Vertebral fusion Abnormality of the sense of smell Anisopoikilocytosis Vertebral wedging Palmar pits Plantar pits Nystagmus Intrauterine growth retardation Abnormality of the dentition Intellectual disability, mild Alopecia Hypogonadism Intellectual disability, moderate Neoplasm Spotty hypopigmentation Oligohydramnios Osteopetrosis Sensorineural hearing impairment Posteriorly rotated ears Coloboma Congenital cataract Microcornea Congenital sensorineural hearing impairment Preauricular pit Albinism Premature graying of hair Shallow orbits Blue irides Profound global developmental delay Generalized hypopigmentation Anemia Recurrent infections Severe short stature Osteopenia Small for gestational age Short distal phalanx of finger Hypopigmentation of the skin Sparse and thin eyebrow Hypopigmented skin patches Underdeveloped nasal alae Encephalocele Pain Widely spaced teeth Dry skin Stage 5 chronic kidney disease Cirrhosis Everted lower lip vermilion Limb undergrowth Cholestasis Rhizomelia Hepatic fibrosis Sandal gap Cutis laxa Chronic kidney disease Pulmonic stenosis Nephronophthisis Scaphocephaly Hypoplasia of teeth Sagittal craniosynostosis Peripheral pulmonary artery stenosis Short nail Bilateral postaxial polydactyly Broad nail 3-4 toe syndactyly Muscle weakness Toe syndactyly Narrow chest Scrotal hypoplasia Vesicoureteral reflux Coronal craniosynostosis Calvarial skull defect Conical tooth Broad philtrum Agenesis of cerebellar vermis Bifid nose Generalized tonic-clonic seizures Synophrys Smooth philtrum Thin vermilion border Intestinal malrotation Joint laxity Preauricular skin tag Horseshoe kidney Biparietal narrowing Prominent metopic ridge Optic disc hypoplasia Exaggerated cupid's bow Abnormality of the skeletal system Renal insufficiency Syndactyly Rod-cone dystrophy Thick corpus callosum


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