High palate, and Bilateral sensorineural hearing impairment

Diseases related with High palate and Bilateral sensorineural hearing impairment

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

Top matches:

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY 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

Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

Other less relevant matches:

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE 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 BOR SYNDROME

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR 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

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

High match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Top 5 symptoms//phenotypes associated to High palate 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
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Bilateral sensorineural hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Brachydactyly Myopia Microcephaly Low-set ears Downslanted palpebral fissures Clinodactyly Depressed nasal bridge Malar flattening Epicanthus Generalized hypotonia Cerebral atrophy Feeding difficulties Scoliosis Abnormal facial shape Strabismus Delayed speech and language development Short stature Frontal bossing High forehead

Rare Symptoms - Less than 30% cases

Cognitive impairment Short palm Blindness Hypoplasia of the corpus callosum Optic atrophy Protruding ear Nail dystrophy Anteverted nares Peripheral neuropathy Cupped ear Short foot Hypoplasia of the cochlea Coloboma Wide mouth Syndactyly Short neck Ventricular septal defect Small nail Behavioral abnormality Brachycephaly Midface retrusion Hydronephrosis Hyperreflexia Renal hypoplasia/aplasia Polyneuropathy Multicystic kidney dysplasia Renal hypoplasia Diabetes mellitus Renal agenesis Dental malocclusion Prominent nose Retrognathia Renal insufficiency Hydrocephalus Dysphagia Focal impaired awareness seizure Downturned corners of mouth Hypermetropia Autism Oligohydramnios Mandibular prognathia Abnormal spermatogenesis High myopia Micrognathia Ptosis Interphalangeal joint contracture of finger Camptodactyly Prominent nasal bridge Wide nasal bridge Cataract High, narrow palate Craniosynostosis Flat face Camptodactyly of finger Short nose Narrow face Narrow mouth Abnormal dermatoglyphics Cystic renal dysplasia Hypsarrhythmia Short phalanx of finger Prominent nasal tip Severe sensorineural hearing impairment Hypoplasia of the iris Triphalangeal thumb Infantile spasms Abnormality of the fingernails Anonychia Epidermal acanthosis Diarrhea Profound sensorineural hearing impairment Dysarthria Gait disturbance Abnormality of the skin Dystonia Oxycephaly Intellectual disability, mild Abnormality of metabolism/homeostasis Babinski sign Alopecia Hypogonadism Aqueductal stenosis Micropenis Dandy-Walker malformation Lambdoidal craniosynostosis Nail dysplasia Pica Short middle phalanx of toe Unicoronal synostosis Muscular hypotonia Low-frequency sensorineural hearing impairment Unicornuate uterus Pancreatic aplasia Ureteral atresia Capitate-hamate fusion Aplasia of the vagina Hypoplasia of the bladder Abnormality of upper lip Ureterocele Hyperconvex nail Subcortical cerebral atrophy Urethral stenosis Bicoronal synostosis Synostosis of carpals/tarsals Anterior plagiocephaly Neonatal hypotonia Abnormality of the head Mental deterioration Everted lower lip vermilion Short distal phalanx of finger Bulbous nose Respiratory tract infection Abnormality of the nervous system Coarse facial features Respiratory distress Recurrent respiratory infections Hyporeflexia Abnormal heart morphology Long philtrum Parietal foramina Craniofacial asymmetry Hemimegalencephaly Hypothyroidism Abnormality of movement Sparse hair Tracheoesophageal fistula Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Trigonocephaly Cone-shaped epiphysis Radial deviation of finger Short middle phalanx of finger Progressive alopecia Broad hallux Hypermelanotic macule Increased thyroid-stimulating hormone level Tarsal synostosis Abnormal T-wave Decreased serum estradiol Hypoplasia of the fallopian tube Hypertension Anodontia Acanthosis nigricans Hypopigmentation of the skin Bradycardia Abnormal cardiac septum morphology Low anterior hairline Plagiocephaly Autistic behavior Hypopigmented skin patches Macrocephaly Apnea Anxiety Increased intracranial pressure Proptosis Prominent forehead Respiratory insufficiency Abnormality of the skeletal system Decreased serum testosterone level Hypopigmentation of hair Arthrogryposis multiplex congenita Cone-shaped epiphyses of the phalanges of the hand Fine hair Psychosis Abnormality of extrapyramidal motor function Dehydration Amenorrhea Coronal craniosynostosis Decreased testicular size Primary amenorrhea Upper airway obstruction Triangular face Sensory neuropathy Febrile seizures Delayed puberty Hypotrichosis Myocardial infarction Sparse scalp hair Heart block Flat occiput Esophageal atresia Long toe Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Sparse eyebrow Choreoathetosis Carpal synostosis Premature ovarian insufficiency Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Hallucinations Hyperechogenic kidneys Unilateral renal hypoplasia Aplasia of the uterus Sloping forehead Premature chromatid separation Small face Optic nerve coloboma Chromosome breakage 2-3 toe syndactyly Cutis marmorata Tetralogy of Fallot Hernia Single transverse palmar crease Abnormality of skin pigmentation Smooth philtrum Postnatal growth retardation Congestive heart failure Intrauterine growth retardation Abnormality of cardiovascular system morphology Constipation Broad femoral metaphyses Broad nasal tip Pointed chin Cerebral visual impairment Open mouth Congenital diaphragmatic hernia Focal-onset seizure Delayed myelination Iris coloboma Rod-cone dystrophy Astigmatism Short philtrum Joint laxity Thin upper lip vermilion Gastroesophageal reflux Hyperactivity Posteriorly rotated ears Growth delay Abnormality of lower limb joint Cone/cone-rod dystrophy Congenital hypoplastic anemia Blepharophimosis Telecanthus Flexion contracture Prominent eyelashes Moderate hearing impairment Reduced sperm motility Anemia of inadequate production Hypoplasia of the maxilla Male infertility Progressive sensorineural hearing impairment Azoospermia Narrow palpebral fissure Infertility Synophrys Anemia Wide nose Depressed nasal ridge Increased vertebral height Pectus excavatum Osteochondroma Camptodactyly of toe Ectopia lentis Joint contracture of the hand Tall stature Arachnodactyly Limited wrist movement Congenital sensorineural hearing impairment Aplasia/Hypoplasia involving the nose Ulnar deviation of the wrist Ulnar deviation of the hand or of fingers of the hand Lacrimal duct atresia Ulnar deviation of the hand Abnormality of the wrist Ulnar deviation of finger Abnormality of the outer ear Abnormal electroretinogram Maturity-onset diabetes of the young Lacrimal duct aplasia Cholesteatoma Dilatated internal auditory canal Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the cerebrum Abnormality of the renal collecting system Euthyroid goiter Gustatory lacrimation Bilateral renal dysplasia Renal steatosis Cochlear malformation Renal malrotation Branchial fistula Arteria lusoria Enlarged cochlear aqueduct Cryptorchidism Body odor Schizophrenia Ovarian cyst Upper limb undergrowth Shawl scrotum Long fingers Unilateral renal agenesis Language impairment Horizontal nystagmus Elevated hepatic transaminase Sparse and thin eyebrow Large fontanelles Recurrent urinary tract infections Hypertrichosis Highly arched eyebrow Stage 5 chronic kidney disease Facial asymmetry Branchial cyst Abnormality of the middle ear ossicles Self-injurious behavior Abnormality of the pinna Vesicoureteral reflux Bifid uvula Pulmonary hypoplasia Long face Microtia Paralysis Abnormality of the kidney Microdontia Facial palsy Conductive hearing impairment Microphthalmia Cleft palate Hypoglycemic seizures Facial hypotonia Abnormality of visual evoked potentials Intestinal malrotation Atrial fibrillation Bilateral renal agenesis Mixed hearing impairment Overbite Lacrimal duct stenosis Ureteropelvic junction obstruction Lacrimation abnormality Stenosis of the external auditory canal External ear malformation Premature graying of hair Renal dysplasia Ectopic kidney Preauricular pit Epiphora Polycystic kidney dysplasia Atresia of the external auditory canal Congenital hip dislocation Preauricular skin tag Thimble-shaped middle phalanges of hand


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