Sensorineural hearing impairment, and Small hand

Diseases related with Sensorineural hearing impairment and Small hand

In the following list you will find some of the most common rare diseases related to Sensorineural hearing impairment and Small hand that can help you solving undiagnosed cases.


Top matches:

Medium match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Medium match 6Q25 MICRODELETION SYNDROME


6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Medium match KABUKI SYNDROME


Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

KABUKI SYNDROME Is also known as kabuki make-up syndrome|niikawa-kuroki syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about KABUKI SYNDROME

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Other less relevant matches:

Medium match ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1


Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of AcrodysostosisSee also ACRDYS2 (OMIM ), caused by mutation in the PDE4D gene (OMIM ) on chromosome 5q12.

ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 Is also known as adohr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1

Medium match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Medium match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Medium match HENNEKAM SYNDROME


Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

Medium match CORNELIA DE LANGE SYNDROME


Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

Medium match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and Small hand

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Sensorineural hearing impairment and Small hand. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Short palm

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Micrognathia Depressed nasal bridge Growth delay Hypertelorism Failure to thrive Anteverted nares Muscular hypotonia Cleft palate Ventriculomegaly Conductive hearing impairment Short nose Malar flattening Obesity Clinodactyly of the 5th finger Short foot Microcornea Global developmental delay Delayed eruption of teeth Cataract Pes planus Feeding difficulties Abnormality of cardiovascular system morphology Hydrocephalus Ventricular septal defect Abnormality of the skeletal system Frontal bossing Intrauterine growth retardation High palate Low-set ears Abnormal facial shape Pyloric stenosis Epicanthus Generalized hypotonia Mandibular prognathia Brachycephaly Hypothyroidism Midface retrusion Highly arched eyebrow Gastroesophageal reflux Ptosis Nystagmus Brachydactyly Abnormality of the dentition Intellectual disability, moderate Synophrys Pectus excavatum Hypospadias Edema Cerebral cortical atrophy Macrotia Myopia Sleep disturbance Short metatarsal Hypodontia Otitis media Glaucoma Behavioral abnormality Smooth philtrum Hyperactivity Feeding difficulties in infancy Congenital diaphragmatic hernia Finger syndactyly Small for gestational age Joint hyperflexibility Long eyelashes Hip dislocation Abnormality of dental morphology Pain Short metacarpal Mild short stature Bilateral single transverse palmar creases Intellectual disability, severe Thin upper lip vermilion Atrial septal defect Hyporeflexia Cognitive impairment Wide nasal bridge Delayed speech and language development Upslanted palpebral fissure Kyphosis Respiratory distress

Rare Symptoms - Less than 30% cases


Flat face Heterotopia Narrow forehead Skeletal dysplasia Hypoplasia of the maxilla Broad nasal tip Abnormality of the kidney Macrocephaly Growth hormone deficiency Respiratory tract infection Hypogonadism Intellectual disability, progressive Optic atrophy Lissencephaly Hypertension Short philtrum Microtia Wide mouth Vesicoureteral reflux Thick vermilion border Pachygyria Gingival overgrowth Retrognathia Short phalanx of finger Hirsutism Paralysis Coarse facial features Neoplasm Self-injurious behavior Mild postnatal growth retardation Obsessive-compulsive behavior Retinal detachment Talipes equinovarus Overweight Diarrhea Broad face Microphthalmia Multicystic kidney dysplasia Polyhydramnios Kyphoscoliosis Broad palm Hypoplasia of the corpus callosum Decreased fetal movement Sparse hair Dilatation Stereotypy Delayed skeletal maturation Broad-based gait Motor delay Laryngomalacia Open mouth Downturned corners of mouth Thin vermilion border Toe syndactyly Ataxia Deeply set eye Recurrent infections Abnormal heart morphology Umbilical hernia Neonatal hypotonia Joint laxity Autism Thick eyebrow Prominent forehead Anteriorly placed anus Delayed puberty Low-set, posteriorly rotated ears EEG abnormality Neurological speech impairment Inguinal hernia Anxiety Iris atrophy Short palpebral fissure Mitral valve prolapse Full cheeks Peripheral neuropathy Hernia Cerebellar hypoplasia Short neck Camptodactyly of finger Intellectual disability, mild Long philtrum Single transverse palmar crease Attention deficit hyperactivity disorder Preauricular skin tag Thoracic scoliosis Hydronephrosis Radioulnar synostosis Increased number of teeth Reduced number of teeth Hypoplasia of penis Microdontia Widely spaced teeth Low anterior hairline Precocious puberty Oral cleft Downslanted palpebral fissures Abnormality of the larynx Aggressive behavior Truncal obesity Protruding ear Macroglossia Abnormality of the outer ear Increased body weight Hoarse voice Abnormal vertebral morphology Omphalocele Sinusitis Poor suck Esotropia Hypoplasia of dental enamel Drooling Hypertriglyceridemia Sacral dimple Abnormality of the urinary system Hypercholesterolemia Abnormality of the cardiovascular system Abnormality of the pinna Nephropathy Low posterior hairline Hypoplastic nipples Cutis marmorata Aplasia/Hypoplasia of the cerebellum Proximal placement of thumb Elbow dislocation Atresia of the external auditory canal Generalized hirsutism Choanal atresia Primary amenorrhea Hip dysplasia Blepharitis Intestinal malrotation Premature birth Micromelia Talipes Joint stiffness Renal insufficiency Hypertonia Pleural lymphangiectasia Pericardial lymphangiectasia Thyroid lymphangiectasia Oligodactyly Severe postnatal growth retardation Falls Areflexia Paresthesia Dry skin Lethargy Hyperlordosis Cleft lip High forehead Posteriorly rotated ears Pes cavus Constipation Clinodactyly Hypoplastic labia majora Abnormality of metabolism/homeostasis Abnormally low-pitched voice Prenatal movement abnormality Impulsivity Curly eyelashes Increased nuchal translucency Volvulus Abnormality of the uterus Short 1st metacarpal Abnormality of the ulna Phthisis bulbi Pelvic kidney Open bite Cubitus valgus Gingivitis Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Subcapsular cataract Weak cry Celiac disease Narrow nasal bridge Abnormality of the hip bone Disproportionate tall stature Cerebral hemorrhage Constriction of peripheral visual field Rheumatoid arthritis Vocal cord paralysis Failure to thrive in infancy Intracranial hemorrhage Recurrent skin infections Venous thrombosis Leukopenia Sandal gap Progressive microcephaly Abnormality of retinal pigmentation Exotropia Tall stature Clumsiness Lumbar hyperlordosis High myopia Microglossia Facial hypotonia Progressive visual loss Chorioretinal dystrophy Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Laryngeal stenosis Misalignment of teeth Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Macrodontia Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Pigmentary retinopathy Convex nasal ridge Abnormality of the thyroid gland Recurrent ear infections Midline brain calcifications Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Conical incisor Premature atrial contractions Hyperacusis Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Everted upper lip vermilion Cavum septum pellucidum Head-banging Abnormal renal morphology Deep palmar crease Thick upper lip vermilion Duodenal atresia Bruxism Short attention span Chronic constipation Self-mutilation Drowsiness Protruding tongue Impaired pain sensation Abnormality of the immune system Progressive spastic paraplegia Abnormality of the forearm Frequent temper tantrums Aciduria Severe global developmental delay Prominent nose Neutropenia Tapered finger High, narrow palate Retinal dystrophy Iris coloboma Joint hypermobility Abnormality of skin pigmentation Retinal degeneration Arachnodactyly Astigmatism Genu valgum Prominent nasal bridge Sleep-wake inversion Stroke Nyctalopia Retinopathy Postnatal growth retardation Arthritis Reduced visual acuity Diabetes mellitus Rod-cone dystrophy Visual loss Thrombocytopenia Blindness Cardiomyopathy Visual impairment Benign neoplasm of the central nervous system Narrow chest Severe hydrops fetalis Mixed hearing impairment Constrictive median neuropathy Menstrual irregularities Elevated circulating parathyroid hormone level Fair hair Blue irides Cone-shaped epiphyses of the phalanges of the hand Epiphyseal stippling Spinal canal stenosis Dislocated radial head Short finger Dextrocardia Hypoplastic vertebral bodies Cone-shaped epiphysis Melanocytic nevus Abnormal pyramidal sign Disproportionate short-limb short stature Increased intracranial pressure Accelerated skeletal maturation Dysmetria Dental malocclusion Nevus Inability to walk Long hallux Thyroid hypoplasia Intention tremor Corneal opacity Sarcoma Dermal atrophy Neoplasm of the skin Congenital hip dislocation Short thumb Telangiectasia Cutaneous photosensitivity Hypopigmentation of the skin Anal atresia Nail dystrophy Skin rash Calvarial hyperostosis Erythema Hyperkeratosis Gait ataxia Osteoporosis Alopecia Vomiting Flexion contracture Anemia Neonatal epiphyseal stippling Narrow vertebral interpedicular distance Brain atrophy Truncal ataxia Squamous cell carcinoma Thoracic hypoplasia Aplasia of the inferior half of the cerebellar vermis Abnormal cardiac septum morphology Coloboma Patent ductus arteriosus Agenesis of corpus callosum Abnormality of nervous system morphology Secundum atrial septal defect Ventricular extrasystoles Shallow orbits External genital hypoplasia Tricuspid regurgitation Abnormality of the neck Rocker bottom foot Patent foramen ovale Redundant skin Abnormality of vision Plagiocephaly Interphalangeal joint contracture of finger Triangular face Abnormality of the eye Facial asymmetry Dolichocephaly Atrophy of the dentate nucleus Thoracic kyphosis Severe short stature Sparse lateral eyebrow Dysdiadochokinesis Global brain atrophy Eversion of lateral third of lower eyelids Lip pit Crossed fused renal ectopia Vertebral clefting Duplicated collecting system Butterfly vertebrae Ureteropelvic junction obstruction Abnormal localization of kidney Short 5th finger Coarctation of aorta Short columella Abnormality of immune system physiology Short middle phalanx of finger Mask-like facies Cortical dysplasia Renal hypoplasia/aplasia Abnormal dermatoglyphics Hemivertebrae Abnormal form of the vertebral bodies Blue sclerae Micropenis Premature graying of hair Pulmonary lymphangiectasia Decreased antibody level in blood Cutaneous syndactyly Abnormal intestine morphology Spina bifida occulta Narrow palate Horseshoe kidney Hypocalcemia Joint contracture of the hand Lymphopenia Hydrops fetalis Lymphedema Ascites Hypoalbuminemia Lymphadenopathy Abnormality of the foot Malabsorption Broad forehead Craniosynostosis Camptodactyly Dysarthria Hepatosplenomegaly Narrow mouth Recurrent respiratory infections Oligodontia Pleural effusion Syndactyly Hypoproteinemia Lymphangioma Erysipelas Intestinal lymphangiectasia Abnormal oral mucosa morphology Primary hypothyroidism Chylothorax Rectal prolapse Periorbital edema Protein-losing enteropathy Generalized edema Sparse axillary hair Ectopic kidney Nonimmune hydrops fetalis Arteriovenous malformation Hypoplastic iliac wing Edema of the lower limbs Polysplenia Coronal craniosynostosis External ear malformation Palpebral edema Cutaneous finger syndactyly Pericardial effusion Tremor Splenomegaly Basal cell carcinoma Acantholysis Absent speech Arrhythmia Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Aplasia/Hypoplasia of the patella Skin erosion Patellar aplasia Blepharophimosis Rectovaginal fistula Concave nasal ridge Poikiloderma Osteosarcoma Absent radius Proportionate short stature Aplasia/Hypoplasia of the thumb Skin vesicle Absent thumb Agenesis of permanent teeth Autistic behavior Scarring Congestive heart failure Supernumerary nipple Respiratory insufficiency Hepatomegaly Self-biting Pain insensitivity Abnormal aortic morphology Broad columella Subvalvular aortic stenosis Renal neoplasm Low hanging columella Tracheomalacia Nephroblastoma Wide nose Narrow palpebral fissure Short chin Aortic valve stenosis Short toe Sparse and thin eyebrow Sparse scalp hair Eczema Wide intermamillary distance Underdeveloped nasal alae Round face Cerebellar atrophy Slender toe



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Generalized tonic-clonic seizures, related diseases and genetic alterations Abnormality of the skeletal system and Dolichocephaly, related diseases and genetic alterations Macrocephaly and Febrile seizures, related diseases and genetic alterations Muscle weakness and Interphalangeal joint contracture of finger, related diseases and genetic alterations Cataract and Dementia, related diseases and genetic alterations

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