Depressed nasal bridge, and Bilateral sensorineural hearing impairment

Diseases related with Depressed nasal bridge and Bilateral sensorineural hearing impairment

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Bilateral sensorineural hearing impairment that can help you solving undiagnosed cases.


Top matches:

High match CRANIOFACIAL-DEAFNESS-HAND SYNDROME


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

High match CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME


CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME Is also known as cagsss

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME

High match FG SYNDROME 4; FGS4


FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 4; FGS4

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Other less relevant matches:

High match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

High match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

High match AXENFELD-RIEGER SYNDROME


Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

AXENFELD-RIEGER SYNDROME Is also known as axenfeld syndrome|anterior chamber cleavage syndrome|rieger syndrome, type 3|rieger syndrome|axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AXENFELD-RIEGER SYNDROME

High match NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME


A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

High match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

High match PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY


Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

High match 17Q12 MICRODELETION SYNDROME


17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Bilateral sensorineural hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Bilateral sensorineural hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Prominent forehead Scoliosis Short stature Seizures Wide nasal bridge Frontal bossing Intellectual disability Growth delay Cerebral atrophy Epicanthus Osteopenia Nystagmus Midface retrusion Hernia Malar flattening Behavioral abnormality Narrow mouth Strabismus Long philtrum Generalized hypotonia Micrognathia

Rare Symptoms - Less than 30% cases


Cryptorchidism Intrauterine growth retardation Muscular hypotonia Elevated hepatic transaminase Hypermetropia Abnormality of the cerebral white matter Neonatal hypotonia Hyperactivity Constipation Intellectual disability, mild Short neck Macrocephaly Microcephaly Open mouth Craniosynostosis Abnormality of visual evoked potentials Thin upper lip vermilion Mandibular prognathia Autism Brachycephaly Blindness Hypoplasia of the corpus callosum Optic atrophy Myopia Feeding difficulties High palate Respiratory failure Hypospadias Diabetes mellitus Hepatomegaly Congenital diaphragmatic hernia Abnormal electroretinogram Glaucoma Focal impaired awareness seizure Atrial septal defect Failure to thrive Hydronephrosis Abnormality of cardiovascular system morphology Hypodontia Abnormality of the skeletal system Downslanted palpebral fissures Clinodactyly Growth hormone deficiency Short nose Hypoplasia of the maxilla Distal sensory impairment Peripheral neuropathy Telecanthus Flexion contracture Delayed myelination Focal-onset seizure Broad nasal tip Cerebral visual impairment Pointed chin Abnormality of the outer ear Cone/cone-rod dystrophy Downturned corners of mouth Iris coloboma Facial hypotonia Self-injurious behavior Hypoglycemic seizures Spasticity Hyperreflexia Gait disturbance Dysphagia Respiratory insufficiency Intellectual disability, severe Hypertonia Dystonia Abnormality of metabolism/homeostasis Babinski sign Myoclonus Polydactyly Astigmatism Periarticular subcutaneous nodules Short philtrum Cystic renal dysplasia Cholestasis Hepatic fibrosis Wide anterior fontanel Polycystic kidney dysplasia Portal hypertension Congenital glaucoma Congenital hypothyroidism Enlarged kidney Hiatus hernia Thoracolumbar scoliosis Esophageal varix Buphthalmos Sagittal craniosynostosis Pancreatic cysts EEG abnormality Pancreatic hypoplasia Splenic cyst Depressed nasal ridge Interphalangeal joint contracture of finger Brachydactyly High, narrow palate Wide nose Flat face Rod-cone dystrophy Posteriorly rotated ears Camptodactyly of finger Blepharophimosis Gastroesophageal reflux Joint laxity Coloboma Developmental regression Ptosis Upper limb undergrowth Small nail Hypertrichosis Recurrent urinary tract infections Large fontanelles Sparse and thin eyebrow Horizontal nystagmus Multicystic kidney dysplasia Renal hypoplasia/aplasia Schizophrenia Language impairment Unilateral renal agenesis Long fingers Shawl scrotum Ovarian cyst Oligohydramnios Maturity-onset diabetes of the young Aplasia of the uterus Long toe Hyperechogenic kidneys Urethral stenosis Subcortical cerebral atrophy Hyperconvex nail Ureterocele Abnormality of upper lip Hypoplasia of the bladder Aplasia of the vagina Ureteral atresia Pica Pancreatic aplasia Renal hypoplasia Highly arched eyebrow Hepatitis Inverted nipples Irritability Retinopathy Neurological speech impairment Severe global developmental delay Retinal degeneration Tetraplegia Brain atrophy Peripheral demyelination Pigmentary retinopathy Generalized-onset seizure Spastic tetraplegia Leukodystrophy Intellectual disability, progressive Hand polydactyly Decreased light- and dark-adapted electroretinogram amplitude Short foot CNS demyelination Tapetoretinal degeneration Abnormality of nervous system morphology No social interaction Diffuse hepatic steatosis Delayed speech and language development Renal insufficiency High forehead Retrognathia Protruding ear Nail dystrophy Facial asymmetry Stage 5 chronic kidney disease Short palm Choanal atresia Cirrhosis Sepsis Abnormality of the periventricular white matter Vertigo Thick vermilion border Polyneuropathy Cardiomegaly Thick lower lip vermilion Subcutaneous nodule Telangiectasia Lymphedema Aminoaciduria Opacification of the corneal stroma Tinnitus Axonal degeneration Telangiectasia of the skin Motor polyneuropathy Dry skin Progressive distal muscle weakness Angiokeratoma Angiokeratoma corporis diffusum Lip telangiectasia Increased urinary O-linked sialopeptides Distal sensory impairment of all modalities White mater abnormalities in the posterior periventricular region Telangiectasia of the oral mucosa Thick eyebrow Cleft palate Genu valgum Congenital cataract Hip dislocation Skeletal dysplasia Peripheral axonal neuropathy Sensory neuropathy Delayed skeletal maturation Reduced visual acuity Multiple skeletal anomalies Thoracic kyphoscoliosis Prelingual sensorineural hearing impairment Fasting hypoglycemia Tremor Achalasia Spinal canal stenosis Progressive sensorineural hearing impairment Spondyloepiphyseal dysplasia Congenital hip dislocation Cerebellar hypoplasia Upslanted palpebral fissure Sensorimotor neuropathy Hip dysplasia Papule Aggressive behavior Feeding difficulties in infancy Unsteady gait Intellectual disability, profound Pachygyria Relative macrocephaly Frontal upsweep of hair Muscle weakness Cognitive impairment Sensory impairment Hyperkeratosis Coarse facial features Abnormality of the eye Distal muscle weakness Hyporeflexia Hypogonadism Renal cyst Retinal vein occlusion Aniridia Posterior embryotoxon Hypoplasia of the iris Ectopia pupillae Concave nasal ridge Peters anomaly Anterior segment developmental abnormality Abnormality of the hypothalamus-pituitary axis Abnormal anterior chamber morphology Rieger anomaly Aplasia/Hypoplasia of the iris Ureteral stenosis Hypoplastic iris stroma Hypertension Redundant skin Ulnar deviation of the hand Abnormality of the wrist Splenomegaly Recurrent infections Pneumonia Ulnar deviation of finger Congenital sensorineural hearing impairment Hypothyroidism Umbilical hernia Narrow face Abnormality of the kidney Hyperlordosis Abnormality of the liver Cervical spinal canal stenosis Anal stenosis Cerebellar vermis hypoplasia Micropenis Primary adrenal insufficiency Postnatal growth retardation Respiratory tract infection Muscular dystrophy Micromelia Abnormality of the genital system Hypocalcemia Nephrocalcinosis Short long bone Hypercalciuria Hypercalcemia Epiphyseal dysplasia Bilateral cryptorchidism Adrenal insufficiency Metaphyseal dysplasia Adrenal hypoplasia Lacrimal duct atresia Metaphyseal cupping Congenital adrenal hypoplasia Motor delay Cataract Limited wrist movement Aplasia/Hypoplasia involving the nose Patent ductus arteriosus Abnormal heart morphology Ulnar deviation of the wrist Proptosis Abnormal cardiac septum morphology Everted lower lip vermilion Ulnar deviation of the hand or of fingers of the hand Microdontia Unicornuate uterus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Retinal detachment, related diseases and genetic alterations Macrocephaly and Developmental regression, related diseases and genetic alterations Macrocephaly and Craniosynostosis, related diseases and genetic alterations Pain and Optic disc pallor, related diseases and genetic alterations Cleft palate and Everted lower lip vermilion, related diseases and genetic alterations Hypertelorism and Frontal bossing, related diseases and genetic alterations

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