Hearing impairment, and Prominent forehead

Diseases related with Hearing impairment and Prominent forehead

In the following list you will find some of the most common rare diseases related to Hearing impairment and Prominent forehead that can help you solving undiagnosed cases.

Top matches:

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY Is also known as scid due to dna-pkcs deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY

Other less relevant matches:

Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25 Is also known as coxpd25

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25

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

Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Medium match STEEL SYNDROME

Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about STEEL SYNDROME

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

Medium 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

Medium 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

Top 5 symptoms//phenotypes associated to Hearing impairment and Prominent forehead

Symptoms // Phenotype % cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hearing impairment and Prominent forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Intellectual disability Feeding difficulties Midface retrusion Scoliosis Short stature Constipation Abnormal facial shape Long philtrum Bilateral sensorineural hearing impairment Macrocephaly Delayed speech and language development Growth delay Low-set ears Seizures Thin upper lip vermilion Strabismus

Rare Symptoms - Less than 30% cases

Nephrocalcinosis Pachygyria Growth hormone deficiency Short neck Protruding ear Feeding difficulties in infancy Micrognathia Behavioral abnormality Muscular hypotonia Broad forehead Failure to thrive Posteriorly rotated ears Short nose Hyperactivity Anteverted nares Pectus carinatum Aggressive behavior Craniosynostosis Coarse facial features Thick eyebrow Motor delay Mixed hearing impairment Hypercalciuria Hypoplasia of the corpus callosum Intrauterine growth retardation Otitis media Clinodactyly Deeply set eye Microcephaly Increased susceptibility to fractures Delayed eruption of teeth Micropenis Metaphyseal dysplasia Finger clinodactyly Congenital hip dislocation Mild short stature Rhizomelia Lumbar hyperlordosis Coxa vara Hip dislocation Hip dysplasia Broad philtrum Wide mouth Abnormal cardiac septum morphology Neurological speech impairment Hypermetropia Wide nose Microdontia Sparse scalp hair Recurrent otitis media Arnold-Chiari malformation Trigonocephaly Sagittal craniosynostosis Thin vermilion border Small pituitary gland Pain Flexion contracture Talipes equinovarus Syndactyly Clinodactyly of the 5th finger Pes planus Hyperlordosis Finger syndactyly Genu valgum Talipes Bilateral talipes equinovarus Acetabular dysplasia Limited elbow extension Respiratory tract infection Open mouth Relative macrocephaly Frontal upsweep of hair Cleft palate Cryptorchidism Frontal bossing Hypospadias Delayed skeletal maturation Hypogonadism Hydronephrosis Postnatal growth retardation Muscular dystrophy Unsteady gait Micromelia Abnormality of the genital system Hypocalcemia Short long bone Hypercalcemia Epiphyseal dysplasia Bilateral cryptorchidism Adrenal insufficiency Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Intellectual disability, profound Neonatal hypotonia Dislocated radial head Synophrys Thoracic scoliosis Hypoplasia of the odontoid process Synostosis of carpal bones Lower limb asymmetry Shallow acetabular fossae Dislocation of the femoral head Myopia Brachycephaly Anxiety Abnormality of the pinna Attention deficit hyperactivity disorder Astigmatism Reduced visual acuity Bulbous nose Hirsutism Downturned corners of mouth Sleep disturbance Full cheeks Agitation Inverted nipples Nystagmus Tremor Intellectual disability, mild Cerebellar hypoplasia Upslanted palpebral fissure Abnormal heart morphology Hyperostosis Abnormality of the skeletal system Hypokalemic hypochloremic metabolic alkalosis Hypokalemic alkalosis Hypokalemic metabolic alkalosis Hypernatriuria Mesangial hypercellularity Increased urinary potassium Hypochloremia Fetal polyuria Hyperchloriduria Global glomerulosclerosis Hypochloremic metabolic alkalosis Reduced renal corticomedullary differentiation Tubulointerstitial fibrosis High palate Malar flattening Abnormality of cardiovascular system morphology Osteoporosis Narrow mouth Osteopenia Platyspondyly Facial asymmetry Recurrent fractures Increased bone mineral density Decreased glomerular filtration rate Metabolic alkalosis Progressive hearing impairment Dehydration Fatigue Edema Renal insufficiency Hyporeflexia Polyhydramnios Small for gestational age Stage 5 chronic kidney disease Postural instability Triangular face Premature birth Nephrolithiasis Alkalosis Hydrops fetalis Hypokalemia Glomerulosclerosis Polydipsia Hyponatremia Congenital sensorineural hearing impairment Polyuria Hyperaldosteronism Renal salt wasting Abnormally large globe Wormian bones Prominent supraorbital ridges Downslanted palpebral fissures Nasal obstruction Facial palsy Overgrowth Tinnitus Abnormality of pelvic girdle bone morphology Metaphyseal widening Chronic otitis media Flared metaphysis Osteomyelitis Abnormality of the vertebral column Misalignment of teeth Sclerosis of skull base Mandibular prognathia Abnormality of the nasopharynx Cranial nerve compression Erlenmeyer flask deformity of the femurs Unilateral facial palsy Bilateral facial palsy Calvarial osteosclerosis Asymmetry of the mandible Club-shaped distal femur Bony paranasal bossing Brachydactyly Conductive hearing impairment Blindness Generalized osteoporosis Cortical gyral simplification Dentinogenesis imperfecta Thoracic platyspondyly Visual impairment Immunodeficiency Sepsis Brain atrophy Cerebellar vermis hypoplasia Short chin CNS hypomyelination Combined immunodeficiency Severe vision loss Intraventricular hemorrhage Severe combined immunodeficiency Recurrent lower respiratory tract infections Overlapping fingers Recurrent aphthous stomatitis Cerebellar atrophy Dilatation Cerebral atrophy Gastroesophageal reflux Increased body weight Preeclampsia Congenital adrenal hypoplasia


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