Brachydactyly, and Bilateral sensorineural hearing impairment

Diseases related with Brachydactyly and Bilateral sensorineural hearing impairment

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


Top matches:

Medium match DEAFNESS-INFERTILITY SYNDROME


Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Medium match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Medium match TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME


Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Is also known as preaxial brachydactyly syndrome, temtamy type

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

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Other less relevant matches:

Medium match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Medium match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Medium match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

Medium match SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Medium match MUENKE SYNDROME


Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Medium match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Medium match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Bilateral sensorineural hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Bilateral sensorineural hearing impairment. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


High palate Hypertelorism Myopia Optic atrophy Generalized hypotonia Midface retrusion Short distal phalanx of finger Cataract Macrocephaly Abnormality of the skeletal system Downturned corners of mouth Microcephaly Frontal bossing Clinodactyly Downslanted palpebral fissures Short palm Strabismus Joint hyperflexibility Joint laxity Coarse facial features Wide nasal bridge Anonychia Hypoplasia of the corpus callosum Hernia Micrognathia Abnormal heart morphology Small nail Joint hypermobility Synophrys

Rare Symptoms - Less than 30% cases


Hypoplasia of the iris Intellectual disability, severe Hypertrichosis Dilatation Patent ductus arteriosus Renal agenesis Abnormality of the skin Prominent nose Bulbous nose Wide mouth Long philtrum Anteverted nares Delayed speech and language development Muscular hypotonia Intellectual disability, profound Thick lower lip vermilion Iris coloboma Colpocephaly Coloboma Mandibular prognathia Autism Brachycephaly Scoliosis Intellectual disability, mild Cerebral atrophy Malar flattening Dental malocclusion Microcornea Delayed eruption of teeth Hip dislocation Corneal opacity Short chin Telecanthus Macrotia Prominent forehead Radial deviation of finger Nystagmus Delayed skeletal maturation Ptosis Hypertension Ventricular septal defect Insulin-resistant diabetes mellitus Bowing of the legs Metaphyseal widening Genu varum Short foot Severe short stature Alopecia Posteriorly rotated ears Congestive heart failure Hypoplasia of teeth Feeding difficulties Abnormality of the dentition Dolichocephaly Nail dystrophy Highly arched eyebrow Tarsal synostosis Severe sensorineural hearing impairment Hypodontia Abnormality of digit Short metacarpal Microdontia Deeply set eye Syndactyly Pes planus Blindness Gingival overgrowth Nail dysplasia Triphalangeal thumb Depressed nasal bridge High forehead Carpal synostosis Abnormality of the hand Growth delay Prominent eyelashes Generalized hirsutism Hyperreflexia Nephrolithiasis Apnea Hydrocephalus Anxiety Proptosis Dysphagia Respiratory insufficiency Everted upper lip vermilion Thickened skin Autistic behavior Polydactyly Craniosynostosis Hypopigmented skin patches Short middle phalanx of finger Tracheoesophageal fistula Cone-shaped epiphysis Trigonocephaly Increased intracranial pressure Macroglossia Acanthosis nigricans Abnormal cardiac septum morphology Plagiocephaly Low anterior hairline Overgrowth Bradycardia Febrile seizures Hypopigmentation of the skin High, narrow palate Epidermal acanthosis Enlarged epiphyses Cognitive impairment Opacification of the corneal stroma Glucose intolerance Hyperglycemia Aortic arch aneurysm Short distal phalanx of toe Accelerated skeletal maturation Lipodystrophy Prominent supraorbital ridges Abnormality of dental enamel Congenital glaucoma Spina bifida occulta Pericardial effusion Hemangioma Nephrocalcinosis Congenital hip dislocation Growth abnormality Large for gestational age Increased body weight Intellectual disability, progressive Reduced subcutaneous adipose tissue Hemivertebrae Abnormal anterior chamber morphology Abnormality of the zygomatic bone Hypoplastic facial bones Birth length less than 3rd percentile Hypermelanotic macule Rieger anomaly Abnormality of the mandible Narrow naris Excessive wrinkled skin Lipoatrophy Dimple chin Abnormal pupil morphology Premature skin wrinkling Increased intraocular pressure Posterior embryotoxon Megalocornea Poor appetite Abnormality of the immune system Broad hallux Abnormality of the head Hypopigmentation of hair Polyhydramnios Abnormal palate morphology Aortic regurgitation Short toe Dental crowding Progressive visual loss Protruding tongue Long penis Convex nasal ridge Relative macrocephaly Esotropia Gingival fibromatosis Umbilical hernia Long face Hepatosplenomegaly Decreased body weight Facial asymmetry Aplasia/Hypoplasia of the corpus callosum Aortic aneurysm Hyperextensibility of the finger joints Scleral staphyloma Splenomegaly Broad ribs Cardiomyopathy Hepatomegaly Dyspnea Posterior staphyloma Short 2nd toe Lop ear Chorioretinal coloboma Dystrophic fingernails Lens luxation Short upper lip Thin bony cortex Profound global developmental delay Neurogenic bladder Congenital nystagmus Unilateral renal agenesis Mental deterioration Intellectual disability, moderate Esophageal atresia Biliary atresia Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Parietal foramina Lambdoidal craniosynostosis Thick vermilion border Generalized hypertrichosis Anterior plagiocephaly Oxycephaly Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Unicoronal synostosis Aortic root aneurysm Hydronephrosis Absent speech Gait ataxia Protruding ear Agenesis of corpus callosum Clinodactyly of the 5th finger Broad forehead Congenital cataract Thick eyebrow Hirsutism Low-frequency sensorineural hearing impairment Microphthalmia Atrial septal defect Ventriculomegaly Talipes equinovarus Visual impairment Spasticity Thimble-shaped middle phalanges of hand Cavernous hemangioma Insulin resistance Irregular epiphyses Abnormality of the face Open mouth Self-injurious behavior Focal impaired awareness seizure Abnormal electroretinogram Cone/cone-rod dystrophy Abnormality of the outer ear Pointed chin Cerebral visual impairment Congenital diaphragmatic hernia Facial hypotonia Focal-onset seizure Delayed myelination Broad nasal tip Astigmatism Hypermetropia Short philtrum Thin upper lip vermilion Gastroesophageal reflux Abnormality of visual evoked potentials Hypoglycemic seizures Hyperactivity Dandy-Walker malformation Cystic renal dysplasia Infantile spasms Abnormal dermatoglyphics Abnormality of the fingernails Short phalanx of finger Hypsarrhythmia High myopia Polyneuropathy Epicanthus Everted lower lip vermilion Respiratory tract infection Abnormality of the nervous system Neonatal hypotonia Recurrent respiratory infections Hyporeflexia Respiratory distress Peripheral neuropathy Narrow mouth Rod-cone dystrophy Profound sensorineural hearing impairment Abnormal spermatogenesis Reduced number of teeth Oligodontia Hypotelorism Ectodermal dysplasia Toe syndactyly Moderate hearing impairment Reduced sperm motility Congenital hypoplastic anemia Agenesis of permanent teeth Anemia of inadequate production Male infertility Progressive sensorineural hearing impairment Azoospermia Narrow palpebral fissure Infertility Prominent nasal bridge Anemia Congenital sensorineural hearing impairment Aplasia cutis congenita Constipation Deep philtrum Abnormality of cardiovascular system morphology Behavioral abnormality Short neck Talon cusp Hitchhiker thumb Diastema Short hallux Radioulnar synostosis Short metatarsal Conical tooth Blue sclerae Cleft palate Bilateral triphalangeal thumbs Hidrotic ectodermal dysplasia Absent toenail Anhidrotic ectodermal dysplasia Selective tooth agenesis High-frequency hearing impairment Prominent nasal tip Pain Thin skin Decreased testosterone in males Flared femoral metaphysis Cervical cord compression Cervical instability Premature osteoarthritis Cervical myelopathy Ulnar deviation of the wrist Atlantoaxial dislocation Hamartomatous polyposis Limited hip extension Carpal bone hypoplasia Myelopathy Ulnar deviation of the hand Decreased serum estradiol Small epiphyses Decreased serum testosterone level Intestinal polyposis Enlarged joints Irregular carpal bones Childhood onset short-limb short stature Beaking of vertebral bodies Inguinal hernia Underdeveloped nasal alae Triangular face Hypotrichosis Neurological speech impairment Small for gestational age Weight loss Glaucoma Diabetes mellitus Depressivity Lumbar spinal canal stenosis Intrauterine growth retardation Failure to thrive Small epiphyses of the phalanges of the hand Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Multiple epiphyseal dysplasia Delayed epiphyseal ossification Gait disturbance Micromelia Osteoarthritis Type II diabetes mellitus Lumbar hyperlordosis Limb undergrowth Waddling gait Growth hormone deficiency Sensory neuropathy Genu valgum Abnormality of epiphysis morphology Delayed puberty Platyspondyly Hyperlordosis Arthritis Arthralgia Skeletal dysplasia Osteopenia Kyphosis Abnormality of the metaphysis Rhizomelia Genu recurvatum Flared metaphysis Upper limb undergrowth Hypoplasia of the odontoid process Spinal canal stenosis Abnormal joint morphology Metaphyseal dysplasia Disproportionate short stature Abnormality of the hip bone Limited elbow extension Spondyloepiphyseal dysplasia Abnormal vertebral morphology Metaphyseal irregularity Rickets Scaling skin Epiphyseal dysplasia Hyperinsulinemia Short long bone Disproportionate short-limb short stature Hypogonadotrophic hypogonadism Mesiodens



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Agenesis of corpus callosum, related diseases and genetic alterations Congestive heart failure and Clinodactyly of the 5th finger, related diseases and genetic alterations

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