Hearing impairment, and Growth hormone deficiency

Diseases related with Hearing impairment and Growth hormone deficiency

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

Top 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

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3 Is also known as hypogammaglobulinemia and isolated growth hormone deficiency, x-linked|ighd iii|fleisher syndrome|agammaglobulinemia and isolated growth hormone deficiency, x-linked|growth hormone deficiency with hypogammaglobulinemia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Diarrhea
  • Immunodeficiency
  • Delayed skeletal maturation


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Low 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

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

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

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 (e.g., BARTS1, {601678}) 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 present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Neoplasm
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI

Top 5 symptoms//phenotypes associated to Hearing impairment and Growth hormone deficiency

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Growth hormone deficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Prominent forehead Failure to thrive Low-set ears Intrauterine growth retardation Increased body weight Generalized hypotonia Hypertelorism Motor delay Scoliosis Wide nasal bridge Delayed skeletal maturation Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases

Skeletal dysplasia Micropenis Severe short stature Myopia Kyphosis Macrocephaly Edema Cryptorchidism Hypocalcemia Neoplasm Abnormal facial shape Hypospadias Bilateral sensorineural hearing impairment Nephrocalcinosis Short long bone Hypercalciuria Hypercalcemia Reduced number of teeth Conductive hearing impairment Microdontia Delayed speech and language development High forehead Short nose Long philtrum Diarrhea Pneumonia Hyperaldosteronism Renal salt wasting Hypomagnesemia Hyperphosphatemia Thrombocytopenia Polycythemia Alkalosis Polyuria Rickets Glomerulonephritis Hypokalemia Anorexia Hyperkalemia Metabolic alkalosis Chondrocalcinosis Abnormality of the retinal vasculature Hypotension Increased circulating renin level Fused cervical vertebrae Short 1st metacarpal Duodenal atresia Absent septum pellucidum Respiratory arrest Absent thumb Hypocalciuria Hypokalemic metabolic alkalosis Hypokalemic alkalosis Abnormal choroid morphology Dehydration Chest pain Premature birth Anterior synechiae of the anterior chamber Small pituitary gland Choanal atresia Hypoplasia of dental enamel Colpocephaly Abnormal renal morphology Slurred speech Prominent supraorbital ridges Myotonia Abnormality of dental morphology Anal stenosis Aniridia Megalocornea Posterior embryotoxon Hypoplasia of the iris Abnormality of the abdominal wall Increased urinary potassium Rieger anomaly Polycoria Bilateral choanal atresia Axenfeld anomaly Abnormally prominent line of Schwalbe Pain Hypertension Vomiting Polyhydramnios Arthritis Small for gestational age Tachycardia Muscle cramps Generalized muscle weakness Azotemia Patent foramen ovale Renal potassium wasting Delayed menarche Short toe Lymphopenia Hypercholesterolemia Keratitis High pitched voice Truncal obesity External genital hypoplasia Prematurely aged appearance Proportionate short stature Underdeveloped supraorbital ridges Abnormality of the elbow Concave nasal ridge Immune dysregulation Aplasia/Hypoplasia involving the nose Chronic diarrhea Hypoplastic nasal bridge Lymphoid interstitial pneumonia Triangular face Neutropenia Astigmatism Pallor Microcephaly Anemia Hypothyroidism Agenesis of corpus callosum Patent ductus arteriosus Ventricular septal defect Atrial septal defect Microphthalmia Hypohidrosis Abnormal lung morphology Abnormality of cardiovascular system morphology Obesity Hyperactive renin-angiotensin system Optic nerve hypoplasia Hyperchloriduria Abnormal sclera morphology Arnold-Chiari malformation Secondary hyperaldosteronism Impaired reabsorption of chloride Abnormality of prostaglandin metabolism Seizures Micrognathia Cognitive impairment Brachydactyly Respiratory distress Recurrent infections Hypoglycemia Vesicoureteral reflux Deeply set eye Delayed puberty Hypodontia Delayed eruption of teeth Progressive visual loss Eczema Horseshoe kidney Hypoplasia of penis Blue sclerae Bone marrow hypocellularity Short thumb Depressed nasal ridge Renal hypoplasia Osteoarthritis Hypoplasia of the maxilla Multiple skeletal anomalies Microcornea Lumbar kyphosis Cyanosis Small nail Hyperextensible skin Hypopituitarism Thoracic kyphosis Pituitary hypothyroidism Panhypopituitarism Adrenocorticotropic hormone deficiency Gonadotropin deficiency Anterior pituitary hypoplasia Prolactin deficiency Abnormal anterior horn cell morphology Thoracolumbar kyphoscoliosis Pituitary dwarfism Hypothalamic luteinizing hormone-releasing hormone deficiency Carious teeth Ptosis Epicanthus Downslanted palpebral fissures Cardiomyopathy Intellectual disability, mild Abnormal heart morphology Hyperkeratosis Hypertrophic cardiomyopathy Sparse hair Broad forehead Leukemia Pulmonic stenosis Webbed neck Cafe-au-lait spot Joint hypermobility Hyperlordosis Bilateral ptosis Meningitis Feeding difficulties Anteverted nares Cerebellar atrophy Dilatation Cerebral atrophy Constipation Gastroesophageal reflux Pectus carinatum Preeclampsia Intraventricular hemorrhage Immunodeficiency Decreased antibody level in blood Recurrent urinary tract infections Sinusitis Recurrent bacterial infections Jaundice Conjunctivitis Encephalitis Chronic otitis media Recurrent sinopulmonary infections Pyoderma Panhypogammaglobulinemia Septic arthritis Epididymitis Prostatitis Enteroviral dermatomyositis syndrome Recurrent enteroviral infections Enteroviral hepatitis Short neck Myopathy Relative macrocephaly Curly hair Everted lower lip vermilion Strabismus Sensory neuropathy Sensory impairment Hip dysplasia Sensorimotor neuropathy Congenital hip dislocation Spondyloepiphyseal dysplasia Progressive sensorineural hearing impairment Spinal canal stenosis Achalasia Fasting hypoglycemia Prelingual sensorineural hearing impairment Thoracic kyphoscoliosis Cervical spinal canal stenosis Periarticular subcutaneous nodules Muscle weakness Thick eyebrow Hydrocephalus Blindness Abnormality of the dentition Hernia Visual loss Inguinal hernia Glaucoma Mandibular prognathia Umbilical hernia Thin upper lip vermilion Telecanthus Short philtrum Anal atresia Confusion Distal sensory impairment Genu valgum Broad neck Epiphyseal dysplasia Asymmetry of the thorax Long eyebrows Juvenile myelomonocytic leukemia Muscular hypotonia Cleft palate Frontal bossing Hypogonadism Hydronephrosis Postnatal growth retardation Respiratory tract infection Craniosynostosis Muscular dystrophy Micromelia Abnormality of the genital system Bilateral cryptorchidism Congenital cataract Adrenal insufficiency Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Nystagmus Cataract Flexion contracture Peripheral neuropathy Hyporeflexia Narrow mouth Osteopenia Hip dislocation Chromosomal breakage induced by crosslinking agents


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Intellectual disability, mild, related diseases and genetic alterations High palate and Joint hypermobility, related diseases and genetic alterations Cardiomyopathy and Neonatal hypotonia, related diseases and genetic alterations Peripheral neuropathy and Small nail, related diseases and genetic alterations Short stature and Dental crowding, related diseases and genetic alterations