Brachydactyly, and Progressive hearing impairment

Diseases related with Brachydactyly and Progressive hearing impairment

In the following list you will find some of the most common rare diseases related to Brachydactyly and Progressive 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 RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Medium match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

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Other less relevant matches:

Low match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Low match KEUTEL SYNDROME


Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4


Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Pain
  • Brachydactyly
  • Clinodactyly
  • Pes planus


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4

Low match ISOLATED BRACHYCEPHALY


Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.

ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Brachydactyly
  • Midface retrusion


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED BRACHYCEPHALY

Low match FEINGOLD SYNDROME TYPE 2


Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.

FEINGOLD SYNDROME TYPE 2 Is also known as brachydactyly with short stature and microcephaly|fs2|fglds2|brunner-winter syndrome type 2|brachydactyly-short stature-microcephaly syndrome|microcephaly-digital anomalies-normal intelligence syndrome type 2|microcephaly-intellectual disability-tracheoes

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FEINGOLD SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Brachydactyly and Progressive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Progressive sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Sensorineural hearing impairment Visual impairment Optic atrophy Abnormal facial shape Hepatomegaly Hypertension Intellectual disability, mild Recurrent otitis media Alopecia Hepatosplenomegaly Pulmonary arterial hypertension Proptosis Clinodactyly Seizures Increased intracranial pressure Kyphosis Low-set ears Infertility Short thumb

Rare Symptoms - Less than 30% cases


Abnormality of the optic disc Myalgia Recurrent bronchitis Respiratory failure Blindness Splenomegaly Dyspnea Edema Frontal bossing Visual loss Fatigue Macrocephaly Kyphoscoliosis Respiratory tract infection Asthma Short neck Depressed nasal bridge Otitis media Abnormality of the skeletal system Thoracic scoliosis Elevated C-reactive protein level Sinusitis Behavioral abnormality Lymphadenopathy Pain Chronic obstructive pulmonary disease Pulmonic stenosis Hypotrichosis Scoliosis Ataxia Postnatal growth retardation Growth delay Abnormality of the foot Diabetes mellitus Anemia Obstructive lung disease Broad foot Abnormal spermatogenesis Conductive hearing impairment Nystagmus Delayed speech and language development Motor delay Pericardial effusion Anteverted nares Pes planus Rod-cone dystrophy Tachypnea Thickened skin Strabismus Emphysema Deeply set eye Midface retrusion Cyanosis Dilatation Sparse hair Recurrent respiratory infections Ascites Tachycardia Hypothyroidism Nephritis Polydipsia Aplasia/Hypoplasia of the cerebellum Autoimmune thrombocytopenia Portal hypertension Obsessive-compulsive behavior Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Lipodystrophy Bronchitis Chronic otitis media Chorioretinal atrophy Constriction of peripheral visual field Truncal obesity Pulmonary fibrosis Polyphagia Short finger Glucose intolerance Abnormal retinal morphology Hydroureter Urinary urgency Impaired vibratory sensation Diabetes insipidus Hyperglycemia Agenesis of permanent teeth Glomerulopathy Hyperostosis Polyuria Glycosuria Acne Generalized hirsutism Hyperinsulinemia Vesicoureteral reflux Epidermal acanthosis Type II diabetes mellitus Cardiomegaly Optic disc pallor Hepatitis Pigmentary retinopathy Specific learning disability Progressive visual loss Decreased testicular size Growth hormone deficiency Gastrointestinal hemorrhage Round face Urinary incontinence Abdominal distention Involuntary movements Sleep disturbance Nephropathy Hepatic steatosis Retinal dystrophy Hirsutism Hepatic failure Cirrhosis Nausea Stage 5 chronic kidney disease Retinal degeneration Dry skin Delayed puberty Carious teeth Ophthalmoplegia Hypertriglyceridemia Recurrent urinary tract infections Precocious puberty Absence seizures Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Polycystic ovaries Goiter Cone/cone-rod dystrophy Hypercholesterolemia Pancreatitis Hyperlipidemia Atherosclerosis Acanthosis nigricans Macular degeneration Accelerated skeletal maturation Nephrocalcinosis Left ventricular hypertrophy Hypogonadotrophic hypogonadism Increased body weight Horizontal nystagmus Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Gynecomastia Hyperpigmentation of the skin Hepatic fibrosis Decreased liver function Insulin resistance Abnormality of retinal pigmentation Anorexia Chronic diarrhea Severe sensorineural hearing impairment Chronic fatigue Hypoventilation ST segment depression Thickened ears Granular macular appearance Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia Facial hirsutism Unilateral breast hypoplasia Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Dilatation of the bladder Glue ear Epigastric pain Otosclerosis Short middle phalanx of finger Cutaneous syndactyly Abnormal vertebral morphology Syndactyly Microcephaly Metacarpal synostosis Underdeveloped supraorbital ridges Broad forehead Brachycephaly Hypertelorism Progressive conductive hearing impairment Synostosis of carpals/tarsals Carpal synostosis Recurrent cystitis Tarsal synostosis Overlapping toe Finger clinodactyly Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Abnormal chorioretinal morphology Abnormality of dental color Insulin-resistant diabetes mellitus Elevated serum creatinine Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Generalized tonic-clonic seizures Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Tubular atrophy Acute hepatic failure Right ventricular hypertrophy Abnormal renal morphology Attenuation of retinal blood vessels Tubulointerstitial nephritis Pendular nystagmus Gingivitis Ketoacidosis Posterior subcapsular cataract Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Menstrual irregularities Endocardial fibroelastosis Lumbar scoliosis Hepatic encephalopathy Abnormality of the urethra Chronic infection Decreased glomerular filtration rate First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Urethral stenosis Retinal pigment epithelial atrophy Achromatopsia Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Urinary retention Arteriosclerosis Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Hypermetropia Peripheral neuropathy Dilated cardiomyopathy Pectus excavatum Peripheral demyelination Sensory impairment Sensory neuropathy Distal sensory impairment Distal amyotrophy Distal muscle weakness Difficulty walking Gait ataxia Pes cavus Areflexia Gait disturbance Joint contracture of the hand Tremor Skeletal muscle atrophy Dysarthria Muscle weakness Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Broad-based gait Paraparesis Uveitis Umbilical hernia Heart murmur Recurrent upper respiratory tract infections Abnormality of the face Mitral regurgitation Mitral valve prolapse Abnormality of the cardiovascular system Limitation of joint mobility Macroglossia Joint stiffness Developmental regression Aggressive behavior Coarse facial features Language impairment Mandibular prognathia Hyperactivity Prominent forehead Inguinal hernia Distal upper limb amyotrophy Positive Romberg sign Abnormality of peripheral nerve conduction Ulnar deviation of the hand Excessive daytime somnolence Impaired pain sensation Skeletal muscle hypertrophy Juvenile rheumatoid arthritis Amyloidosis Distal arthrogryposis Myopia Broad nasal tip Low-set, posteriorly rotated ears Thin upper lip vermilion High forehead Glaucoma Upslanted palpebral fissure Posteriorly rotated ears Long philtrum Short nose Cerebellar atrophy Prominent eyelashes Short palpebral fissure Moderate hearing impairment Reduced sperm motility Congenital hypoplastic anemia Anemia of inadequate production Male infertility Azoospermia Narrow palpebral fissure Bilateral sensorineural hearing impairment Synophrys Prominent nasal bridge High palate Delayed myelination Broad thumb Arthropathy Migraine Abnormal joint morphology Elevated erythrocyte sedimentation rate Leukocytosis Urticaria Reduced bone mineral density Purpura Joint dislocation Vasculitis Meningitis Overgrowth Premature birth Nausea and vomiting Corneal dystrophy Papule Skin rash Arthritis EEG abnormality Arthralgia Skeletal dysplasia Fever Broad distal phalanx of finger Wide nasal base Broad columella Congenital hypothyroidism Protruding tongue Protuberant abdomen Cough Cataract Renal insufficiency Dystonia Abnormality of the dentition Congestive heart failure Vomiting Cardiomyopathy Respiratory distress Respiratory insufficiency Feeding difficulties Cognitive impairment Failure to thrive Depressivity Cartilaginous ossification of larynx Premature fusion of phalangeal epiphyses Cartilaginous ossification of nose Calcification of the auricular cartilage Costal cartilage calcification Soft, doughy skin Tracheal atresia Calcification of cartilage Arterial calcification Pulmonary artery hypoplasia Abdominal aortic aneurysm Obesity Encephalopathy Short nail Jaundice Nyctalopia Retinopathy Scarring Abnormality of the liver Autistic behavior Pallor Irritability Abnormality of the kidney Proteinuria Elevated hepatic transaminase Photophobia Gastroesophageal reflux Patent ductus arteriosus Autism Weight loss Hyperkeratosis Polydactyly Abdominal pain Hypogonadism Hyperhidrosis Myoclonus Pneumonia Constipation Hyporeflexia Papillary thyroid carcinoma Shortening of all distal phalanges of the fingers Insomnia Urinary glycosaminoglycan excretion Malar flattening Ventricular septal defect Abnormality of nasopharyngeal adenoids Localized skin lesion Dysplastic aortic valve Focal seizures, afebril Intervertebral space narrowing Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Short digit Anisopoikilocytosis Heparan sulfate excretion in urine Macrotia Morphological abnormality of the central nervous system J-shaped sella turcica Hyperplasia of the maxilla Hypochromic anemia Inspiratory stridor Thoracolumbar kyphosis Increased mean corpuscular volume Communicating hydrocephalus Beaking of vertebral bodies Edema of the lower limbs Abnormality of the skull Osteoporosis Hydronephrosis Peripheral pulmonary artery stenosis Deep philtrum Thyroid carcinoma Short hallux Chronic sinusitis Pulmonary artery stenosis Irregular vertebral endplates Epiphyseal stippling Recurrent sinusitis Mixed hearing impairment Aortic aneurysm Nasal speech Dermal atrophy Growth abnormality Carcinoma Cutis laxa Spontaneous abortion Leukodystrophy Short phalanx of finger Sloping forehead Cerebral calcification Memory impairment Underdeveloped nasal alae Wide nose Short distal phalanx of finger Long face Aplasia of the middle phalanx of the hand



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