Brachydactyly, and Vertigo

Diseases related with Brachydactyly and Vertigo

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


Top matches:

Medium match SICK SINUS SYNDROME 2; SSS2


SICK SINUS SYNDROME 2; SSS2 Is also known as atrial fibrillation with bradyarrhythmia|sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation|sinus node disease, familial, autosomal dominant|sinus bradycardia syndrome, familial, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Brachydactyly
  • Fatigue
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MESH MENDELIAN

More info about SICK SINUS SYNDROME 2; SSS2

Low 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

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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Other less relevant matches:

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match PROXIMAL SYMPHALANGISM


Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

PROXIMAL SYMPHALANGISM Is also known as symphalangism, cushing type

Related symptoms:

  • Strabismus
  • Sensorineural hearing impairment
  • Brachydactyly
  • Clinodactyly of the 5th finger
  • Pes planus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SYMPHALANGISM

Low match CHARGE SYNDROME


CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

Low match BRACHYDACTYLY TYPE B2


Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.

Related symptoms:

  • Sensorineural hearing impairment
  • Brachydactyly
  • Syndactyly
  • Finger syndactyly
  • Hypermetropia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYDACTYLY TYPE B2

Low 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

Low match CZECH DYSPLASIA, METATARSAL TYPE


Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

CZECH DYSPLASIA, METATARSAL TYPE Is also known as pseudorheumatoid dysplasia, progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|czech dysplasia, metatarsal type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CZECH DYSPLASIA, METATARSAL TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Vertigo

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Clinodactyly of the 5th finger Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Vertigo. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Strabismus Short stature Abnormality of the skeletal system Scoliosis Abnormal heart morphology Growth delay Hypospadias Intrauterine growth retardation Seizures Microcephaly Prominent nasal bridge High palate Anemia Nystagmus Atrial septal defect Hypertelorism Toe syndactyly Global developmental delay Abnormality of the urinary system Finger syndactyly Abnormality of cardiovascular system morphology Ptosis Cryptorchidism Midface retrusion Postnatal growth retardation Choanal atresia Syndactyly Abnormal facial shape Pes planus Failure to thrive Proptosis Hydrocephalus

Rare Symptoms - Less than 30% cases


Feeding difficulties Depressed nasal bridge Hypoplasia of the ulna Generalized hypotonia Short thumb Anal atresia Astigmatism Renal agenesis Tetralogy of Fallot Abnormality of the genital system Recurrent urinary tract infections Horseshoe kidney Abnormal aortic valve morphology Cranial nerve paralysis Abnormality of vision Triphalangeal thumb Tracheoesophageal fistula Ectopic kidney Absent radius External ear malformation Optic atrophy Hernia Ventricular septal defect Weak cry Hypertrichosis Aspiration Torticollis Short metatarsal Proximal placement of thumb Abnormality of digit Tarsal synostosis High myopia Synostosis of carpal bones Proximal symphalangism Small nail Cutaneous syndactyly Reduced number of teeth Short distal phalanx of finger Short toe Renal hypoplasia Webbed neck Talipes equinovarus Autism Anteverted nares Behavioral abnormality Long philtrum Pneumonia Prominent forehead Narrow mouth Gastroesophageal reflux Delayed eruption of teeth Retrognathia Conductive hearing impairment Abnormality of the pinna Pulmonic stenosis Micromelia Cleft upper lip Highly arched eyebrow Facial asymmetry Vesicoureteral reflux Dolichocephaly Synophrys Hypothyroidism Hypogonadism Severe short stature Patent ductus arteriosus Thrombocytopenia Headache Low-set ears Fatigue Hypertrophic cardiomyopathy Congestive heart failure Bilateral sensorineural hearing impairment Azoospermia Microphthalmia Ventriculomegaly Frontal bossing Fever Epicanthus Umbilical hernia Neoplasm Small for gestational age Abnormal cardiac septum morphology Hip dislocation Abnormality of the eye Atrial fibrillation Laryngomalacia Sudden cardiac death Reduced renal corticomedullary differentiation Anosmia Abnormality of the outer ear Syncope Plagiocephaly Holoprosencephaly Short chin Hypogonadotrophic hypogonadism Hemivertebrae Overfolded helix Abnormality of the umbilicus Hypocalcemia Narrow face Lymphopenia Preauricular skin tag Renal dysplasia Hypoplastic radial head Omphalocele Hand polydactyly Cupped ear Chorioretinal coloboma Broad palm Choanal stenosis Abnormal cranial nerve morphology Hypoplasia of the zygomatic bone Down-sloping shoulders Broad neck Double outlet right ventricle Esophageal atresia Anal stenosis Abnormality of immune system physiology Duplication of internal organs Obsessive-compulsive behavior Mixed hearing impairment External genital hypoplasia Vestibular dysfunction Mask-like facies Malrotation of colon Aplasia/Hypoplasia of the cerebellum Bifid scrotum Anophthalmia Otitis media with effusion Abnormality of the ribs Mitral valve prolapse Camptodactyly of finger Dysplastic tricuspid valve Abnormality of the wrist Blindness Left ventricular hypertrophy Respiratory insufficiency Palpitations Dysphagia Downslanted palpebral fissures Muscular hypotonia Dumbbell-shaped long bone Upper airway obstruction Short femur Hypoplastic scapulae Immunodeficiency Glossoptosis Femoral bowing Metaphyseal widening Rhizomelia Premature birth Narrow chest Ventricular hypertrophy Metacarpophalangeal synostosis Proximal/middle symphalangism of 5th finger Abnormal finger flexion creases Malar flattening Visual loss Elbow ankylosis Paralysis Dandy-Walker malformation Finger clinodactyly Growth hormone deficiency Iris coloboma Talipes Delayed puberty Pectus carinatum Microtia Attention deficit hyperactivity disorder Abnormally large globe Feeding difficulties in infancy Respiratory failure Apnea Low-set, posteriorly rotated ears Facial palsy Cleft lip Hydronephrosis Abnormality of the metacarpal bones Photophobia Polyhydramnios Elbow dislocation Micropenis Coloboma Aqueductal stenosis Eyelid coloboma Gingival overgrowth Hypoplasia of teeth High-frequency hearing impairment Conical tooth Severe sensorineural hearing impairment Aplasia cutis congenita Agenesis of permanent teeth Anonychia Congenital sensorineural hearing impairment Abnormality of the hand Oligodontia Hypotelorism Anhidrotic ectodermal dysplasia Nail dysplasia Ectodermal dysplasia Joint hypermobility Nail dystrophy Deeply set eye High forehead Absent phalangeal crease Aplasia/Hypoplasia of the middle phalanges of the toes Short distal phalanx of toe Type B brachydactyly Selective tooth agenesis Absent toenail Proximal symphalangism of hands Growth abnormality Periarticular calcification Intervertebral space narrowing Flat capital femoral epiphysis Narrow iliac wings Thoracic kyphosis Irregular vertebral endplates Arthropathy Abnormal joint morphology Short femoral neck Spondyloepiphyseal dysplasia Coxa vara Hidrotic ectodermal dysplasia Osteoarthritis Waddling gait Short metacarpal Limitation of joint mobility Platyspondyly Arthritis Arthralgia Skeletal dysplasia Flexion contracture Pain Bilateral triphalangeal thumbs Distal symphalangism Aplasia/Hypoplasia of the distal phalanges of the hand Duodenal atresia Lacrimation abnormality Bilateral choanal atresia Abnormality of the thymus Lop ear Abnormality of the cervical spine Narrow naris Arrhinencephaly Dimple chin Interrupted aortic arch Abnormality of female internal genitalia Microphallus Peripheral pulmonary artery stenosis Abnormality of the adrenal glands Gonadotropin deficiency Anterior hypopituitarism Aplasia/Hypoplasia of the earlobes Left-to-right shunt Labial hypoplasia Abnormality of tibia morphology Hyposmia Tics Facial paralysis Retinal coloboma Aortic arch aneurysm Abnormality of bone mineral density Aplasia/Hypoplasia of the nails Hypermetropia Aplasia/Hypoplasia of the distal phalanges of the toes Distal symphalangism of hands Aplasia/Hypoplasia of the middle phalanges of the hand Absent fingernail Cutaneous syndactyly of toes Symphalangism affecting the phalanges of the hand Short 1st metacarpal Carpal synostosis Cutaneous finger syndactyly Short foot Posterior choanal atresia Abnormal palmar dermatoglyphics Parachute mitral valve Hypoplasia of the semicircular canal Parathyroid hypoplasia Abnormal soft palate morphology Bifid femur Hypoplasia of the cochlea Hand monodactyly Unilateral facial palsy Aplasia/Hypoplasia of the thymus Abnormality of the inner ear Square face Projectile vomiting Peters anomaly Hypertropia Primary hypothyroidism Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Abnormality of nervous system morphology Absent testis Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Hypoplastic anemia Compensated hypothyroidism Abnormality of the uterus Delayed speech and language development Vomiting Intellectual disability, severe Cardiomyopathy Short neck Hepatomegaly Hyperreflexia Macrocephaly Myopia Wide nasal bridge Hypertension Respiratory distress Almond-shaped palpebral fissure Renal insufficiency Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Abnormality of the testis Aplastic anemia Hypertonia Irritability Carcinoma Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Insulin resistance Cafe-au-lait spot Telangiectasia Aganglionic megacolon Abnormality of the kidney Short palpebral fissure Leukopenia Pancytopenia Oligohydramnios Sloping forehead Abnormality of the liver Lymphoma Hypopigmentation of the skin Neutropenia Bruising susceptibility Abnormality of skin pigmentation Leukemia Type I diabetes mellitus Renal hypoplasia/aplasia Abnormality of the upper limb Multiple cafe-au-lait spots B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Myeloid leukemia Hypopigmented skin patches Absent thumb Hydroureter Squamous cell carcinoma Glucose intolerance Upslanted palpebral fissure Diabetes mellitus Myelodysplasia Hyperinsulinemia Weight loss Reduced bone mineral density Abnormality of the dentition Visual impairment Esophageal stenosis Pyloric stenosis Cardiac arrest Limited elbow extension Opisthotonus 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Aortic regurgitation Self-injurious behavior Atrioventricular block Dislocated radial head Deep philtrum Incoordination Hypoplasia of the radius Relative macrocephaly Widely spaced teeth Ventricular fibrillation Spontaneous abortion Elbow flexion contracture Increased body weight Low anterior hairline Bradycardia Hypoplastic nipples Long eyelashes Panhypopituitarism Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Short sternum Abnormality of the foot Volvulus Oligodactyly Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Ectrodactyly Ventricular extrasystoles Sinus bradycardia Cataract Mandibular prognathia Male infertility Camptodactyly Telecanthus Aggressive behavior Proteinuria Anemia of inadequate production Hypoglycemia Thin upper lip vermilion Congenital hypoplastic anemia Abnormal spermatogenesis Reduced sperm motility Pallor Moderate hearing impairment Glaucoma Hyperactivity Brachycephaly Hyperhidrosis Prominent eyelashes Ataxia Delayed skeletal maturation Inguinal hernia Clinodactyly Respiratory tract infection Autistic behavior Low posterior hairline Infertility Left ventricular noncompaction Blue sclerae Sick sinus syndrome Congenital diaphragmatic hernia Microdontia Otitis media Sepsis Triangular face Renal cyst Microcornea Sleep disturbance Craniosynostosis Tapered finger Single transverse palmar crease Small hand High, narrow palate Downturned corners of mouth Hirsutism Pulmonary hypoplasia Thick eyebrow Thin vermilion border Narrow palpebral fissure Progressive sensorineural hearing impairment Narrow femoral neck



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Inguinal hernia, related diseases and genetic alterations Macrocephaly and Hydronephrosis, related diseases and genetic alterations

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