Wide nasal bridge, and Skeletal dysplasia

Diseases related with Wide nasal bridge and Skeletal dysplasia

In the following list you will find some of the most common rare diseases related to Wide nasal bridge and Skeletal dysplasia that can help you solving undiagnosed cases.


Top matches:

High match CRANIODIAPHYSEAL DYSPLASIA


Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Depressed nasal bridge
  • Wide nasal bridge
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA

High match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Medium match CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD


Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997).The delineation of separate autosomal dominant and autosomal recessive (CMDR ) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD Is also known as cmdj|cmd|craniometaphyseal dysplasia, jackson type

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD

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Other less relevant matches:

Medium match OTOPALATODIGITAL SYNDROME TYPE 1


Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

OTOPALATODIGITAL SYNDROME TYPE 1 Is also known as opd syndrome 1|opd i syndrome|taybi syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME TYPE 1

Medium match CRANIOMETAPHYSEAL DYSPLASIA


Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Medium match D-2-HYDROXYGLUTARIC ACIDURIA


D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Medium match REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Medium match PERIVENTRICULAR NODULAR HETEROTOPIA


Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant|periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|heterotopia, periventricular, x-linked dominant|pvnh4, formerly|nhbp|nodular heterotopia, bilateral periventricular|bpnh

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA

Top 5 symptoms//phenotypes associated to Wide nasal bridge and Skeletal dysplasia

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Wide nasal bridge and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Anteverted nares Sensorineural hearing impairment Short stature Conductive hearing impairment Frontal bossing Prominent supraorbital ridges Blindness Global developmental delay Long philtrum Seizures Mandibular prognathia Prominent forehead Cryptorchidism Flared metaphysis Hyperostosis Coarse facial features Optic atrophy

Rare Symptoms - Less than 30% cases


Club-shaped distal femur Abnormality of the nasopharynx Sclerosis of skull base Nasal obstruction Cranial nerve compression Metaphyseal dysplasia Micropenis Encephalopathy Malar flattening Asymmetry of the mandible Oligodontia Bony paranasal bossing Visual impairment Midface retrusion Thin upper lip vermilion Micrognathia Wide mouth Narrow naris Respiratory distress Thickened calvaria Cleft palate Microcephaly Metaphyseal widening Increased bone mineral density Cardiomyopathy Short distal phalanx of finger Intellectual disability, mild Downslanted palpebral fissures Chronic otitis media Mixed hearing impairment Apnea Increased CSF protein Aortic regurgitation Facial hyperostosis Cataract Delayed speech and language development Focal-onset seizure Limb undergrowth Mitral regurgitation Epiphyseal dysplasia Brachydactyly Craniofacial hyperostosis Facial palsy Delayed eruption of teeth Otitis media Overgrowth Feeding difficulties Abnormal renal physiology Bilateral ptosis Anteverted ears Epiphyseal stippling Subependymal cysts Pes planus Cardiogenic shock Multiple epiphyseal dysplasia Miosis Hyperoxaluria Short fourth metatarsal Osteopenia Elevated levels of phytanic acid Infantile encephalopathy Anosmia Failure to thrive Glutaric aciduria High palate Gastroesophageal reflux Scoliosis Nyctalopia Progressive hearing impairment Congestive heart failure Limb muscle weakness Rod-cone dystrophy Ichthyosis Retinal degeneration Pes cavus Polyneuropathy Hyporeflexia Renal cyst Arrhythmia Peripheral neuropathy D-2-hydroxyglutaric aciduria Sensory impairment Ptosis Pigmentary retinopathy Nystagmus Cardiomegaly Ataxia Leukodystrophy Neonatal hypotonia Multifocal cerebral white matter abnormalities Sensorimotor neuropathy Joint laxity Decreased skull ossification Sparse hair Myocardial infarction Intellectual disability, severe Syndactyly Dilatation Recurrent infections Patent ductus arteriosus Cerebellar hypoplasia Agenesis of corpus callosum Stroke Confusion Joint hypermobility Intestinal malrotation Generalized-onset seizure Nephrotic syndrome Heterotopia Forehead hyperpigmentation Lissencephaly Bicuspid aortic valve Patent foramen ovale Aortic aneurysm Abnormality of the coagulation cascade Abnormality of neuronal migration Emphysema Cortical dysplasia Shawl scrotum Enlarged cisterna magna Widow's peak Dyslexia Congenital nephrotic syndrome Strabismus Punctate cataract Prominent nasal bridge Large fontanelles Narrow chest Carious teeth Pulmonic stenosis Joint hyperflexibility Smooth philtrum Abnormality of skin pigmentation Thin vermilion border Wide nose Hypoplasia of the maxilla Bifid uvula Prominent nose Esotropia Microdontia Hyperpigmentation of the skin Posterior wedging of vertebral bodies Wide anterior fontanel Hemangioma Coarse hair Brittle hair Premature loss of teeth Capillary hemangioma Generalized tonic seizures Delayed closure of the anterior fontanelle Hypoplasia of teeth Narrow iliac wings High iliac wings Sutural cataract Posterior Y-sutural cataract Inspiratory stridor Respiratory insufficiency Episodic vomiting Anodontia Bilateral facial palsy Calvarial osteosclerosis Short palm Limitation of joint mobility Bowing of the long bones Short thumb Sandal gap Abnormality of the metacarpal bones Elbow dislocation Proximal placement of thumb Synostosis of carpal bones Short hallux Erlenmeyer flask deformity of the femurs Hypoplastic frontal sinuses Abnormal vertebral segmentation and fusion Abnormality of the tarsal bones Visual loss Telecanthus Abnormality of the metaphysis Relative macrocephaly Abnormality of the thorax Epiphora Osteopetrosis Abnormal cranial nerve morphology Unilateral facial palsy Misalignment of teeth Delayed eruption of permanent teeth Thick vermilion border Abnormality of the ribs Stenosis of the external auditory canal Diaphyseal thickening Diaphyseal sclerosis Diaphyseal dysplasia Hepatomegaly Pneumonia Respiratory failure Dyspnea Joint stiffness Bulbous nose Small hand Abnormality of the vertebral column Full cheeks Round face Thickened skin Hoarse voice Sleep apnea Pulmonary artery stenosis Subglottic stenosis Tinnitus Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Osteomyelitis Nasolacrimal duct obstruction Broad alveolar ridges Periventricular leukomalacia Aciduria Cerebral atrophy Myoclonus Brachycephaly Hyperactivity Cerebral cortical atrophy Irritability Protruding ear Dolichocephaly Lethargy Flat face Broad nasal tip Epileptic encephalopathy Vomiting Hypsarrhythmia Involuntary movements Cerebral visual impairment Absence seizures Severe muscular hypotonia Shock Focal impaired awareness seizure Stridor Turricephaly Dilation of lateral ventricles Delayed CNS myelination Behavioral abnormality Ventriculomegaly Patchy sclerosis of finger phalanx Dental malocclusion Abnormality of the skeletal system Abnormality of the dentition Short nose Hernia Clinodactyly Severe short stature Proptosis High forehead Umbilical hernia Cleft lip Camptodactyly Broad thumb Muscular hypotonia Dental crowding Short phalanx of finger Gingival overgrowth Mesomelia Depressed nasal tip Generalized osteosclerosis Triangular mouth Mesomelic short stature Narrow nasal tip Otitis media with effusion Generalized hypotonia Muscle weakness Subependymal nodules



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