Hearing impairment, and Intestinal malrotation

Diseases related with Hearing impairment and Intestinal malrotation

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


Top matches:

Low match HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2


The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Intestinal malrotation
  • Aganglionic megacolon
  • Heterochromia iridis


SOURCES: OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2

Low match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Low match KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1


Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

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Other less relevant matches:

Low match PFEIFFER SYNDROME TYPE 3


Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

Low match IVIC SYNDROME


IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

IVIC SYNDROME Is also known as oculo-oto-radial syndrome|oculootoradial syndrome|oors|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Strabismus
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IVIC SYNDROME

Low match TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME


Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Low match HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2


Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Low match OPITZ GBBB SYNDROME, TYPE I; GBBB1


The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Low match DONNAI-BARROW SYNDROME


Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

Low 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

Top 5 symptoms//phenotypes associated to Hearing impairment and Intestinal malrotation

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hearing impairment and Intestinal malrotation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hernia Pulmonary hypoplasia Anal atresia Hypertelorism Posteriorly rotated ears Macrocephaly Low-set ears Ventricular septal defect Scoliosis Strabismus Seizures Coloboma Midface retrusion Frontal bossing Conductive hearing impairment Abnormal facial shape High palate Stenosis of the external auditory canal Agenesis of corpus callosum Abnormal heart morphology Congenital diaphragmatic hernia

Rare Symptoms - Less than 30% cases


Short nose Depressed nasal bridge Proptosis External ear malformation Hydronephrosis Vesicoureteral reflux Telecanthus Myopia Widow's peak Epicanthus Relative macrocephaly Renal dysplasia Prominent forehead Dysphagia Renal malrotation Macular hypoplasia Hydrocephalus Cleft lip Wide anterior fontanel Heterotopia Iris coloboma Mixed hearing impairment Microdontia Cleft upper lip Atrial septal defect Tracheomalacia Abnormality of cardiovascular system morphology Retrognathia Facial asymmetry Respiratory distress Microtia Polyhydramnios Talipes equinovarus Abnormality of the pinna Atresia of the external auditory canal Increased number of teeth Prominent metopic ridge Aspiration Abnormality of the voice Double outlet right ventricle Large fontanelles Euthyroid goiter Recurrent urinary tract infections Ambiguous genitalia Hypodontia Unilateral renal hypoplasia Aspiration pneumonia Bilateral cleft lip Bilateral renal dysplasia Smooth philtrum Renal steatosis Bilateral cleft lip and palate Hydrocele testis Pulmonary artery atresia Volvulus Abnormality of the pharynx Chylothorax Right aortic arch Abnormality of the nasopharynx Intestinal lymphangiectasia Bladder exstrophy Oral cleft Abnormality of the renal collecting system Pectus carinatum Severe hydrocephalus Cholestasis Enlarged cochlear aqueduct Cholesteatoma Dilatated internal auditory canal Microretrognathia Lissencephaly Incomplete partition of the cochlea type II Cortical gyral simplification Abnormal lacrimal duct morphology Communicating hydrocephalus Abnormal cortical gyration Colpocephaly Periventricular gray matter heterotopia Lacrimal duct aplasia Cryptorchidism Wide nasal bridge Abnormality of the cerebrum Anteverted nares Respiratory insufficiency Syndactyly Hypospadias Pectus excavatum Patent ductus arteriosus Pneumonia Exstrophy Gastroesophageal reflux Thin upper lip vermilion Recurrent aspiration pneumonia Cataract Osteoma Renal agenesis Facial palsy Branchial cyst Body odor Abnormality of the middle ear ossicles Bilateral renal agenesis Overbite Lacrimal duct stenosis Ureteropelvic junction obstruction Abnormality of the kidney Paralysis Long face Flat face Bifid uvula Oligohydramnios Microphthalmia Bilateral sensorineural hearing impairment Renal hypoplasia Atrial fibrillation Preauricular skin tag Narrow face Congenital hip dislocation Multicystic kidney dysplasia Renal hypoplasia/aplasia Polycystic kidney dysplasia Cupped ear Epiphora Preauricular pit Ectopic kidney Premature graying of hair Arteria lusoria Renal insufficiency Posterior pharyngeal cleft Aminoaciduria Lacrimation abnormality Hypoplasia of the cochlea Malar flattening Umbilical hernia Proteinuria Broad forehead Retinal dystrophy Retinal detachment Broad nasal tip Progressive visual loss High myopia Omphalocele Abnormal vertebral morphology Aplasia/Hypoplasia of the corpus callosum Non-acidotic proximal tubulopathy Prominent supraorbital ridges Epiphyseal dysplasia Long nose Partial agenesis of the corpus callosum Severe sensorineural hearing impairment Hypoplasia of the iris Abnormality of the uterus Bicornuate uterus Short sternum Proximal tubulopathy Cochlear malformation Branchial fistula Infra-orbital crease Low-molecular-weight proteinuria Diaphragmatic eventration Nephroblastoma Dandy-Walker malformation Toe syndactyly Bimanual synkinesia Posterior fossa cyst Congenital muscular torticollis Abnormal vertebral segmentation and fusion Cervical C2/C3 vertebral fusion Moderate hearing impairment Abnormality of limb bone morphology Decreased cervical spine mobility Mild conductive hearing impairment Limited neck range of motion Cervicomedullary schisis High forehead Finger syndactyly Small hand Fused cervical vertebrae Short foot Limitation of joint mobility Choanal atresia Broad thumb Amblyopia Horseshoe kidney Increased intracranial pressure Arnold-Chiari malformation Laryngomalacia Short hallux Broad hallux phalanx Aqueductal stenosis Brachyturricephaly Hallux varus Stiff neck Sprengel anomaly Thrombocytopenia Hyperplasia of the maxilla Aganglionic megacolon Heterochromia iridis White forelock Total colonic aganglionosis Micrognathia Narrow mouth Abnormality of the eye Hypoplasia of the maxilla Hypotelorism Situs inversus totalis Holoprosencephaly Abnormality of the outer ear Transposition of the great arteries Microglossia Mandibular aplasia Vertebral fusion Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Proboscis Aglossia Synotia Short neck Webbed neck Otitis media Abnormality of the ribs Low posterior hairline Abnormality of the genitourinary system Unilateral renal agenesis Rocker bottom foot Growth delay Arrhythmia Bulbous nose Large for gestational age Astigmatism Thick vermilion border Neutropenia Renal cyst Macroglossia Round face Overgrowth Mitral valve prolapse Tall stature Spina bifida Spina bifida occulta Large hands Bowing of the legs Enlarged kidney Protruding ear Long foot Varicose veins Retinal coloboma Long hallux Bifid ureter Generalized hypotonia Motor delay Optic atrophy Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar hypoplasia Abnormal cardiac septum morphology Joint hypermobility Hepatic failure Talipes Deeply set eye Severe short stature Carpal synostosis Joint stiffness Ectodermal dysplasia Short thumb External ophthalmoplegia Abnormal dermatoglyphics Hypoplasia of the radius Radioulnar synostosis Triphalangeal thumb Preaxial hand polydactyly Leukocytosis Right bundle branch block Bundle branch block Absent thumb Synostosis of carpal bones Short 1st metacarpal Pes planus Rectovaginal fistula Carpal bone hypoplasia Limited elbow movement Aplastic clavicle Small thenar eminence Limited wrist movement Limited interphalangeal movement Pectoralis major hypoplasia Hypoplasia of deltoid muscle Neoplasm Abnormality of the skeletal system Intellectual disability, mild Inguinal hernia Macrotia Gustatory lacrimation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Joint hyperflexibility, related diseases and genetic alterations Downslanted palpebral fissures and Autism, related diseases and genetic alterations Intellectual disability, severe and Hypopigmentation of the skin, related diseases and genetic alterations Hydrocephalus and Hypertrophic cardiomyopathy, related diseases and genetic alterations Hydrocephalus and Aggressive behavior, related diseases and genetic alterations Flexion contracture and Spinal muscular atrophy, related diseases and genetic alterations

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