Hearing impairment, and Wide intermamillary distance

Diseases related with Hearing impairment and Wide intermamillary distance

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

Top matches:

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

Other less relevant matches:

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

Medium match FRASER SYNDROME

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Medium match PIERPONT SYNDROME

Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

PIERPONT SYNDROME Is also known as plantar lipomatosis, unusual facies, and developmental delay|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PIERPONT SYNDROME

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Top 5 symptoms//phenotypes associated to Hearing impairment and Wide intermamillary distance

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hearing impairment and Wide intermamillary distance. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Short neck Global developmental delay Depressed nasal bridge Abnormal facial shape Wide nasal bridge Short stature Upslanted palpebral fissure Umbilical hernia Abnormality of the pinna High palate Low-set ears Microphthalmia Cleft palate Flat face Anteverted nares Delayed speech and language development Full cheeks Ptosis Scrotal hypoplasia Low-set, posteriorly rotated ears Microcornea Blepharophimosis Hernia Telecanthus Malar flattening Scoliosis Hypospadias Micrognathia Posteriorly rotated ears Abnormality of cardiovascular system morphology Micropenis

Rare Symptoms - Less than 30% cases

Midface retrusion Congenital sensorineural hearing impairment Cleft upper lip Short palpebral fissure Myopathic facies Conductive hearing impairment Wide mouth Tapered finger Short palm Feeding difficulties Microtia Anal atresia Motor delay Blindness Everted lower lip vermilion Narrow mouth Pectus excavatum Osteopenia Dental malocclusion Hypoplasia of penis Overfolded helix Widely spaced teeth Downslanted palpebral fissures Wide nose Brachycephaly External ear malformation Renal hypoplasia Muscular hypotonia High forehead Abnormality of the dentition Intellectual disability, severe High anterior hairline Muscular hypotonia of the trunk Cerebral visual impairment Generalized tonic-clonic seizures Ectopic anus Toe syndactyly Smooth philtrum Short foot Absent speech Sensorineural hearing impairment Long philtrum Hypoplastic nipples Hypoplasia of the corpus callosum Encephalocele Multicystic kidney dysplasia Dental crowding Lower limb asymmetry Irregular hyperpigmentation Atresia of the external auditory canal Anophthalmia Neuroblastoma Vertebral segmentation defect Anal stenosis Hamartoma Cerebellar vermis atrophy Omphalocele Inguinal hernia Ambiguous genitalia Tented philtrum Anonychia Global brain atrophy Poor eye contact Short columella Low hanging columella Thick nasal alae Small thenar eminence Frontal upsweep of hair Pseudoepiphyses Flat forehead Increased number of skin folds Abnormality of the scrotum Underdeveloped nasal alae Pseudoepiphysis of the thumb Upper limb asymmetry Absent nail of hallux Abnormal lung lobation Median cleft palate Broad eyebrow Hypoplastic thumbnail Periorbital fullness Finger syndactyly Oral cleft Pulmonary hypoplasia Abnormality of the musculature Laryngeal stenosis Myelomeningocele Small scrotum Multiple lipomas Broad palm Generalized hirsutism Broad foot Thickened skin Pendular nystagmus Broad face Deep palmar crease Broad philtrum Hypoplasia of dental enamel Deep plantar creases Long upper lip Large fleshy ears Wide nasal ridge Abnormal peripheral nervous system morphology Flat occiput Prominent median palatal raphe Hypoplastic areola Unilateral narrow palpebral fissure Edema Congestive heart failure Abnormality of the face Intellectual disability, mild Hypertrichosis Dandy-Walker malformation Abnormal heart morphology Febrile seizures Abnormality of the skin Nevus Severe global developmental delay Cutis laxa Infantile muscular hypotonia Tracheal stenosis Lacrimal duct aplasia Calvarial skull defect Bifid tongue Abnormal hair pattern Bicornuate uterus Vaginal atresia Abnormal vagina morphology Subglottic stenosis Retinopathy Abnormality of the middle ear Female pseudohermaphroditism Urethral atresia Cryptophthalmos Cleft ala nasi Wide pubic symphysis Midline nasal groove Narrow palpebral fissure Overlapping toe Thin vermilion border Joint laxity Deeply set eye Macrotia Optic nerve hypoplasia Tricuspid regurgitation Long fingers Malformed lacrimal duct Adducted thumb Short nose Hypertonia Strabismus Failure to thrive Nystagmus Broad hallux Aplasia/Hypoplasia of the nipples Intellectual disability, progressive Curly hair Visual impairment Syndactyly Synophrys Oligohydramnios Broad-based gait Postnatal microcephaly Stereotypy Drooling Coarse hair Bilateral ptosis 2-3 toe syndactyly Bruxism Abnormality of body height Flexion contracture Optic atrophy Ventriculomegaly Respiratory distress Patent ductus arteriosus Jaundice Developmental regression Pulmonic stenosis Coarctation of aorta Absence seizures Hypoplastic left heart Cystic hygroma Increased female libido Absence of pubertal development Tethered cord Abnormality of the voice Depressivity Delayed skeletal maturation Osteoporosis Anxiety Camptodactyly Delayed puberty Decreased testicular size Primary amenorrhea Gynecomastia Hypogonadotrophic hypogonadism Azoospermia Impotence Non-obstructive azoospermia Hypoplasia of the uterus Sparse body hair Secondary amenorrhea Generalized joint laxity Male hypogonadism Decreased serum testosterone level Absence of secondary sex characteristics Breast hypoplasia Decreased testosterone in males Eunuchoid habitus Female hypogonadism Hypoplasia of the ovary Double outlet right ventricle Cognitive impairment Low anterior hairline Carious teeth Intellectual disability, moderate Stage 5 chronic kidney disease Pancytopenia Thick lower lip vermilion Renal dysplasia Telangiectasia Abnormal dermatoglyphics Bifid scrotum Telangiectasia of the skin Chordee Pes planus Microdontia Hypothyroidism Broad neck Ureterocele Cerebral atrophy Neonatal hypotonia Short distal phalanx of finger Thick vermilion border Downturned corners of mouth Prominent nose Small nail Open mouth Broad thumb Short thumb Proteinuria Renal insufficiency Ventricular septal defect Abnormality of the vertebral column Polydactyly Cleft lip Abnormality of the kidney Facial asymmetry Postaxial polydactyly Webbed neck Abnormality of the ribs Low posterior hairline Spina bifida Renal hypoplasia/aplasia Hemiplegia/hemiparesis Vertebral fusion Sprengel anomaly Myopia Abnormal cranial nerve morphology Fused cervical vertebrae Short sternum Abnormality of the shoulder Abnormal sacrum morphology Congenital muscular torticollis Aplasia of the ulna Cervical C2/C3 vertebral fusion Abnormal vertebral segmentation and fusion Decreased cervical spine mobility Limited neck range of motion Cataract Localized neuroblastoma


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