Hearing impairment, and Triangular face

Diseases related with Hearing impairment and Triangular face

In the following list you will find some of the most common rare diseases related to Hearing impairment and Triangular face 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

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 3 Is also known as severe osteogenesis imperfecta|osteogenesis imperfecta, progressively deforming, with normal sclerae|progressive deforming osteogenesis imperfecta|oi type 3|oi, type iii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 3

Other less relevant matches:

Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 5 Is also known as oi type 5|oi, type v

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 5

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Medium match BARBER-SAY SYNDROME

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

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 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 1, ANTENATAL; BARTS1 Is also known as hyperprostaglandin e syndrome 1|hypokalemic alkalosis with hypercalciuria 1, antenatal

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1

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 X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE X; OI10 Is also known as oi, type x

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE X; OI10

Medium match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Top 5 symptoms//phenotypes associated to Hearing impairment and Triangular face

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Triangular face. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Prominent forehead Scoliosis Abnormal facial shape Dentinogenesis imperfecta Increased susceptibility to fractures Wormian bones Macrocephaly Bulbous nose Thin vermilion border Blue sclerae Osteopenia Sensorineural hearing impairment Protruding ear Renal insufficiency

Rare Symptoms - Less than 30% cases

Dehydration Recurrent fractures Biconcave vertebral bodies Motor delay Wide mouth Wide anterior fontanel Hypertonia Talipes equinovarus Kyphoscoliosis Abnormality of the dentition Polyhydramnios Small for gestational age Stage 5 chronic kidney disease Joint hypermobility Short neck Cleft palate Narrow mouth Narrow forehead Anteverted nares Malar flattening Low-set ears Muscular hypotonia Seizures Abnormality of the pinna Vertebral compression fractures Relative macrocephaly Midface retrusion Nephrolithiasis Limb undergrowth Platyspondyly Hyperlordosis Mandibular prognathia Pectus excavatum Growth delay Smooth philtrum Abnormality of the nervous system Epicanthus Premature birth Metabolic alkalosis Strabismus Hypokalemic alkalosis Hypokalemic metabolic alkalosis Renal salt wasting Increased urinary potassium Hyperaldosteronism Hypochloremia Polyuria Fetal polyuria Hyperchloriduria Alkalosis Hypercalciuria Hypokalemia Cryptorchidism Long philtrum Wide nasal bridge Nephrocalcinosis Ptosis Broad alveolar ridges Genu valgum High palate Ablepharon Micromelia Abnormal lung morphology Flexion contracture Ureteropelvic junction obstruction Broad ribs Chronic lung disease Generalized joint laxity Coxa valga Frontal hirsutism Chronic kidney disease Mild hearing impairment Pyloric stenosis Narrow chest Femoral bowing Thin ribs Shallow orbits Abnormality of female external genitalia Generalized hypertrichosis High pitched voice Generalized muscle weakness Joint laxity Constipation Diabetes insipidus Hyperparathyroidism Muscle cramps Paresthesia Hypomagnesemia Chondrocalcinosis Tetany Parathyroid adenoma Increased circulating renin level Parathyroid hyperplasia Gastroesophageal reflux Nephrogenic diabetes insipidus Weight loss Hyposthenuria Hydronephrosis Diarrhea Vomiting Renal potassium wasting Hyperactive renin-angiotensin system Increased serum prostaglandin E2 Hyperprostaglandinuria Low-to-normal blood pressure Renal juxtaglomerular cell hypertrophy/hyperplasia Respiratory distress Respiratory insufficiency Fever Hypercalcemia Abnormality of male external genitalia High forehead Inguinal hernia Limitation of joint mobility Intellectual disability, mild Hyperactivity Excessive purine production Decreased hip abduction Ulnar deviation of the hand or of fingers of the hand Camptodactyly of toe Increased urinary hypoxanthine Ataxia Hypertension Peripheral neuropathy Cardiomyopathy Recurrent infections Arrhythmia Areflexia Pneumonia Diabetes mellitus Hyperuricosuria Abnormality of the rib cage Arthritis Neurological speech impairment Hypermetropia Abnormality of eye movement Dysmetria Peripheral axonal neuropathy Polyneuropathy Convex nasal ridge Hypotelorism Hyperuricemia Arnold-Chiari type I malformation Gout High-frequency hearing impairment Abnormal aortic morphology Abnormality of skeletal muscles Down-sloping shoulders Syndactyly Webbed neck Clinodactyly of the 5th finger Deeply set eye Camptodactyly Retinopathy Camptodactyly of finger Finger syndactyly Arthrogryposis multiplex congenita Ophthalmoplegia Abnormality of the foot Facial asymmetry Talipes Abnormality of skin pigmentation Single transverse palmar crease Bifid uvula Dandy-Walker malformation Thoracolumbar scoliosis Lumbar hyperlordosis Interphalangeal joint contracture of finger Short phalanx of finger Abnormal vertebral morphology Sparse or absent eyelashes Congenital hip dislocation Knee flexion contracture Pterygium Overlapping toe Bilateral talipes equinovarus Decreased muscle mass Cutaneous finger syndactyly Submucous cleft hard palate Distal arthrogryposis Breast aplasia Rigidity Gingival fibromatosis Abnormality of the eye Tibial bowing Slender long bone Platybasia Neonatal short-limb short stature Multiple prenatal fractures Protrusio acetabuli Basilar impression Decreased calvarial ossification Bowing of limbs due to multiple fractures Severe generalized osteoporosis Abnormality of metabolism/homeostasis Pes planus Thin upper lip vermilion Broad forehead Pulmonary arterial hypertension Round face Rhizomelia Abnormality of pelvic girdle bone morphology Mixed hearing impairment Dislocated radial head Barrel-shaped chest Vertebral wedging Limited pronation/supination of forearm Thin calvarium Dense metaphyseal bands Anterior radial head dislocation Hyperplastic callus formation Microcephaly Abnormality of the thorax Kyphosis Spasticity Mesangial hypercellularity Fatigue Edema Hyporeflexia Postural instability Hydrops fetalis Glomerulosclerosis Polydipsia Hyponatremia Congenital sensorineural hearing impairment Abnormally large globe Tubulointerstitial fibrosis Decreased glomerular filtration rate Hypernatriuria Global glomerulosclerosis Frontal bossing Hypochloremic metabolic alkalosis Hypokalemic hypochloremic metabolic alkalosis Reduced renal corticomedullary differentiation Feeding difficulties Depressed nasal bridge Clinodactyly Coarse facial features Carcinoma Blepharophimosis Prominent nose Decreased body weight Cafe-au-lait spot Scrotal hypoplasia Nystagmus Hyperreflexia Absent nipple Hyperextensible skin Ectodermal dysplasia Dental malocclusion Underdeveloped nasal alae Abnormality of the skin Microdontia Hypertrichosis Depressed nasal ridge Abnormality of the genital system Abnormality of the face Sparse and thin eyebrow Low anterior hairline Generalized hirsutism Cutis laxa Dermal atrophy High, narrow palate Atresia of the external auditory canal Redundant skin Sparse eyebrow Ectropion Cupped ear Aplasia/Hypoplasia of the eyebrow Long nose Aplasia/Hypoplasia of the skin Hypoplastic nipples Shawl scrotum Inverted nipples Taurodontia Skin tags Delayed eruption of teeth Hirsutism Skeletal muscle atrophy Thick vermilion border Downslanted palpebral fissures Abnormality of the skeletal system Hypoplasia of the corpus callosum Short nose Absent speech Babinski sign Upslanted palpebral fissure Cerebral cortical atrophy Muscular hypotonia of the trunk Pectus carinatum Generalized tonic-clonic seizures Arachnodactyly Inability to walk Brain atrophy Dry skin Postnatal microcephaly Progressive microcephaly Leukodystrophy Mutism CNS hypomyelination Overfolded helix Global brain atrophy Long toe Hypertelorism Hypospadias Conductive hearing impairment Telecanthus Microtia Uric acid nephrolithiasis


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