Brachydactyly, and Situs inversus totalis

Diseases related with Brachydactyly and Situs inversus totalis

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


Top matches:

Medium match BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

Medium match CARPENTER SYNDROME


Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER SYNDROME

Medium match 22Q11.2 MICRODUPLICATION SYNDROME


The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

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Other less relevant matches:

Medium match BARDET-BIEDL SYNDROME 1; BBS1


Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

Medium match CATEL-MANZKE SYNDROME


Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

CATEL-MANZKE SYNDROME Is also known as index finger anomaly-pierre robin syndrome|index finger anomaly with pierre robin syndrome|pierre robin syndrome-hyperphalangy-clinodactyly syndrome|micrognathia digital syndrome|palatodigital syndrome, catel-manzke type|pierre robin syndrome with hyperph

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATEL-MANZKE SYNDROME

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

Low match ELLIS VAN CREVELD SYNDROME


Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Low match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Low match OCULOFACIOCARDIODENTAL SYNDROME


Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.

OCULOFACIOCARDIODENTAL SYNDROME Is also known as oculofaciocardiodental syndrome|anop2, formerly|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|microphthalmia, cataracts, radiculomegaly, and septal heart defects|maa2, formerly|ofcd syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOFACIOCARDIODENTAL SYNDROME

Low match ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS


Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow SyndromeSee also autosomal dominant Robinow syndrome-1 (DRS1 ), caused by mutation in the WNT5A gene (OMIM ) on chromosome 3p; DRS2 (OMIM ), caused by mutation in the DVL1 gene (OMIM ) on chromosome 1p36; and DRS3 (OMIM ), caused by mutation in the DVL3 gene (OMIM ) on chromosome 3q27.

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS Is also known as costovertebral segmentation defect with mesomelia, formerly|covesdem syndrome, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

Top 5 symptoms//phenotypes associated to Brachydactyly and Situs inversus totalis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Situs inversus totalis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Dextrocardia

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Low-set ears High palate Talipes equinovarus Atrial septal defect Hypertelorism Abnormal facial shape Cleft palate Polydactyly Midface retrusion Umbilical hernia Failure to thrive Abnormality of the skeletal system Depressed nasal bridge Hearing impairment Hypodontia Intrauterine growth retardation Syndactyly Hypospadias External genital hypoplasia Postaxial polydactyly Micropenis Obesity Transposition of the great arteries Abnormality of the kidney Coloboma Delayed eruption of teeth Pulmonic stenosis Genu valgum Highly arched eyebrow Skeletal dysplasia Iris coloboma Postaxial hand polydactyly Retrognathia Severe short stature Short nose Delayed speech and language development Hypogonadism Micrognathia Seizures Dental malocclusion Pectus carinatum Posteriorly rotated ears Foot polydactyly Epicanthus Hypoplastic left heart Double outlet right ventricle Abnormal heart morphology Anteverted nares Short neck Strabismus Pectus excavatum Clinodactyly Patent ductus arteriosus Hydronephrosis Abnormal cardiac septum morphology Renal agenesis

Rare Symptoms - Less than 30% cases


Laryngomalacia Septate vagina Radial deviation of finger Flexion contracture Renal insufficiency Menstrual irregularities Increased number of teeth Vaginal atresia Macrocephaly Dental crowding Abnormality of the genital system Common atrium Glaucoma Long philtrum Cataract Hypertension Malar flattening High, narrow palate Sensorineural hearing impairment Inguinal hernia Broad palm Small hand Ambiguous genitalia Broad nasal tip Intestinal malrotation Disproportionate short-limb short stature Mild short stature Anemia Hypothyroidism Abnormality of the dentition Delayed skeletal maturation Abnormality of female internal genitalia Nail dysplasia Aplasia/Hypoplasia of the lungs Limb undergrowth Short palm Hydrocephalus Clinodactyly of the 5th finger Small nail Proptosis Low-set, posteriorly rotated ears Postnatal growth retardation Missing ribs Cleft upper lip Short distal phalanx of finger Decreased body weight Pain Tetralogy of Fallot Wide anterior fontanel Radioulnar synostosis Hemivertebrae Abnormal vertebral morphology Short thumb Narrow face Cubitus valgus Specific learning disability Brachycephaly Postaxial foot polydactyly Abnormality of the pinna Mandibular prognathia Hernia Upslanted palpebral fissure Rod-cone dystrophy Downslanted palpebral fissures Anosmia Frontal bossing Stage 5 chronic kidney disease Camptodactyly Retinal degeneration Finger syndactyly Toe syndactyly Broad thumb Microcephaly Preaxial polydactyly Undetectable electroretinogram Ptosis Neurological speech impairment Wide nasal bridge Wide nose Thoracic dysplasia Triangular mouth Renal dysplasia Recurrent urinary tract infections Clitoral hypoplasia Omphalocele Renal duplication Choanal atresia Abnormality of the ribs Short thorax Mesomelic short stature Agenesis of permanent teeth Broad toe Congenital diaphragmatic hernia Forearm undergrowth Atrioventricular canal defect Disproportionate short stature Large fontanelles Delayed eruption of permanent teeth Thoracic hypoplasia Unilateral renal agenesis Rib fusion Vertebral segmentation defect Right bundle branch block Bundle branch block Ectopic kidney Preaxial hand polydactyly Tracheoesophageal fistula Bifid scrotum Preauricular skin tag Triphalangeal thumb Short middle phalanx of the 5th finger Hypoplasia of the radius Tachypnea Abnormality of the outer ear Multicystic kidney dysplasia Normocytic anemia Spina bifida Aplasia/Hypoplasia involving the metacarpal bones Hypoplasia of penis Thoracic hemivertebrae Conical incisor Cone-shaped epiphyses of phalanges 2 to 5 Acute leukemia Abnormality of the alveolar ridges Acetabular spurs Short iliac bones Congenital megaureter Capitate-hamate fusion Bifid distal phalanx of toe Dysphagia Abnormal oral frenulum morphology Abnormality of bone marrow cell morphology Neonatal short-limb short stature Abnormal oral mucosa morphology Horizontal ribs Duplication of the distal phalanx of hand Hypoplastic iliac wing Epispadias Absent uvula Congestive heart failure Abnormal hair quantity Anal atresia Abnormal heart valve morphology Natal tooth Premature birth Abnormality of the ureter Vesicoureteral reflux Pulmonary hypoplasia Tachycardia Hypoplastic sacrum Right ventricular outlet obstruction Facial asymmetry Bifid tongue Synostosis of carpal bones Upper limb undergrowth Respiratory tract infection Right atrial isomerism Polyhydramnios Pneumonia Non-midline cleft lip Thoracolumbar scoliosis Abnormality of the sternum Feeding difficulties in infancy Retinal detachment Thick eyebrow Long face Congenital cataract Asymmetry of the ears Prominent nasal bridge Transverse vaginal septum Blepharophimosis Fused teeth Deeply set eye Bifid uvula Multiple unerupted teeth Flexion contracture of the 4th toe Visual loss Flexion contracture of the 2nd toe Microphthalmia Laterally curved eyebrow Intellectual disability, mild Vomiting Hypoplasia of the corpus callosum Microcornea Mitral valve prolapse Hydroureter Adrenal insufficiency Hand clenching Peripheral pulmonary artery stenosis Anteverted ears Bifid nasal tip Asplenia Misalignment of teeth Submucous cleft hard palate Single median maxillary incisor Remnants of the hyaloid vascular system 2-3 toe syndactyly Phthisis bulbi Anophthalmia Hammertoe Heart murmur Ectopia lentis Oligodontia Abnormal palate morphology Spastic paraparesis Aortic valve stenosis Exotropia Motor delay Patent urachus Hypoplastic labia majora Mesomelia Rectovaginal fistula Duodenal atresia Tracheal stenosis Flat face Macroglossia Long eyelashes Gingival overgrowth Delayed cranial suture closure Single umbilical artery Vertebral fusion Wide mouth Long palpebral fissure Esophageal atresia Anencephaly Aplasia/Hypoplasia of the radius Nevus flammeus Persistence of primary teeth Absent radius Wheezing Occipital encephalocele Confusion Thin upper lip vermilion Asymmetric crying face Abnormality of the intervertebral disk Abnormal tracheobronchial morphology Abdominal pain Perineal fistula Potter facies Abnormality of the gallbladder Hemifacial hypoplasia Absence of the sacrum Anorectal anomaly Abnormality of the urethra Lower limb undergrowth Atelectasis Vertebral clefting Laryngeal stenosis Abnormality of the nasopharynx Abnormal sacrum morphology Supernumerary ribs Hepatosplenomegaly Tethered cord Cavernous hemangioma Ureteropelvic junction obstruction Abnormality of the pancreas Feeding difficulties Open mouth Emphysema Interrupted aortic arch Subependymal cysts Aplasia/Hypoplasia of the thymus Displacement of the external urethral meatus Persistent left superior vena cava Anterior creases of earlobe Velopharyngeal insufficiency Urethral stenosis Total anomalous pulmonary venous return Abnormality of the pharynx Heterotaxy Ataxia Anomalous pulmonary venous return Abdominal situs inversus Dyslexia Abnormality of immune system physiology Obsessive-compulsive behavior Stridor Nasal speech Abnormality of the genitourinary system Sleep apnea Bilateral trilobed lungs Nystagmus Depressed nasal ridge Decreased testicular size Tricuspid regurgitation Clubbing Bicuspid aortic valve Hepatic fibrosis Left ventricular hypertrophy Aganglionic megacolon Primary amenorrhea Pigmentary retinopathy Amenorrhea Asthma Visual impairment Short foot Retinal dystrophy Hirsutism Astigmatism Paraplegia Retinopathy Reduced visual acuity Diabetes mellitus Myopia Stereotypy Gastrointestinal hemorrhage Macular dystrophy Sparse and thin eyebrow Hypoplastic nipples Cutaneous finger syndactyly Supernumerary nipple Cone/cone-rod dystrophy Bilateral cryptorchidism Trigonocephaly Cutis laxa Coxa vara Narrow palate Wide intermamillary distance Turricephaly Webbed neck Craniosynostosis Protruding ear Kyphoscoliosis Polydipsia Polyuria Hyposmia Bilateral postaxial polydactyly Mesoaxial polydactyly Shawl scrotum Abnormality of the skull Thick vermilion border Intellectual disability, severe Smooth philtrum Poor speech Attention deficit hyperactivity disorder Apnea Anxiety High forehead Autism Prominent forehead Behavioral abnormality Muscular hypotonia Polysplenia Generalized hypotonia Renal cyst Abnormal reproductive system morphology Aplasia of the middle phalanx of the hand Narrow naris Diaphragmatic eventration Abnormal cornea morphology Oxycephaly Cloverleaf skull Preaxial foot polydactyly Hypoplasia of the uterus Truncal obesity Hypoplastic toenails Mixed hearing impairment Constrictive median neuropathy 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 Cone-shaped epiphysis Hypoplastic vertebral bodies Melanocytic nevus Short metatarsal Increased intracranial pressure Accelerated skeletal maturation Short phalanx of finger Y-shaped metacarpals Otitis media Short metacarpal Nevus Long hallux Thyroid hypoplasia Small for gestational age Heterotopia Hand polydactyly Abnormality of pelvic girdle bone morphology Short long bone Renal hypoplasia/aplasia Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Short ribs Abnormality of the hair Microdontia Calvarial hyperostosis Dandy-Walker malformation Ectodermal dysplasia Thin vermilion border Micromelia Narrow chest Nail dystrophy Neonatal epiphyseal stippling Mild postnatal growth retardation Narrow vertebral interpedicular distance Hypoplasia of the maxilla Cognitive impairment Nephronophthisis Respiratory distress Coarctation of aorta Full cheeks Single transverse palmar crease Talipes Joint hyperflexibility Camptodactyly of finger Joint stiffness Joint laxity Edema Ventriculomegaly Abnormality of epiphysis morphology Hydrometrocolpos Nephrogenic diabetes insipidus Biliary tract abnormality Microphallus Tapetoretinal degeneration Abnormality of the ovary Gait imbalance Broad foot Poor coordination Hypertrichosis Short toe Kyphosis Ankyloglossia Optic atrophy Hyperphalangy of the 2nd finger Ulnar deviation of the 2nd finger Radial deviation of the 2nd finger Oral synechia Prominent antihelix Knee dislocation Metatarsus valgus Overriding aorta Thin eyebrow Finger clinodactyly Short hallux Pierre-Robin sequence Glossoptosis Short humerus Cystic hygroma Short middle phalanx of finger Chronic otitis media Adducted thumb Narrow palpebral fissure Joint dislocation Cervical agenesis



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