Brachydactyly, and Coarctation of aorta

Diseases related with Brachydactyly and Coarctation of aorta

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


Top matches:

Low match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Low match SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

Low match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

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Other less relevant matches:

Low match HYDRANENCEPHALY


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

Low match TORIELLO-LACASSIE-DROSTE SYNDROME


Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Low 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

Low match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Low match KLEEFSTRA SYNDROME 1; KLEFS1


Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 1; KLEFS1

Low match DISTAL MONOSOMY 15Q


Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

DISTAL MONOSOMY 15Q Is also known as monosomy 15q26|drayer syndrome|telomeric 15q deletion syndrome|distal 15q deletion syndrome|15q26 deletion syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DISTAL MONOSOMY 15Q

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Top 5 symptoms//phenotypes associated to Brachydactyly and Coarctation of aorta

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Ventricular septal defect Scoliosis Hypertelorism Wide nasal bridge Malar flattening Small nail Bicuspid aortic valve Clinodactyly Intellectual disability Cleft palate Pulmonic stenosis Abnormality of cardiovascular system morphology Anteverted nares Highly arched eyebrow Growth delay Strabismus Hearing impairment Syndactyly Short nose Hypodontia Patent ductus arteriosus Respiratory distress Epicanthus Depressed nasal bridge Clinodactyly of the 5th finger Broad forehead Abnormality of the pinna Broad nasal tip Facial asymmetry Upslanted palpebral fissure Postnatal growth retardation Abnormality of the skeletal system Intrauterine growth retardation Cryptorchidism Micrognathia Blepharophimosis Finger clinodactyly Hypospadias Failure to thrive Decreased body weight Behavioral abnormality Atrial septal defect High palate Single transverse palmar crease Persistence of primary teeth Talipes equinovarus Congestive heart failure Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Abnormality of the cerebral white matter Hyperactivity Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Autism Self-mutilation Joint laxity Depressivity Micropenis Severe short stature Motor delay Talipes Short distal phalanx of finger Obsessive-compulsive behavior Muscle weakness Stroke Splenomegaly Generalized hypotonia Ventriculomegaly Hernia Aplasia cutis congenita Muscular hypotonia Protruding ear Short philtrum Toe syndactyly Hypoplastic left heart Everted lower lip vermilion Intellectual disability, severe Sleep disturbance Delayed speech and language development Hamartoma Short palpebral fissure Atrioventricular canal defect Coloboma Arrhythmia Umbilical hernia Thin upper lip vermilion Autistic behavior Agenesis of corpus callosum Proptosis Macrocephaly Downslanted palpebral fissures Small hand Polydactyly Polyhydramnios Coarse facial features Generalized joint laxity Triangular face Delayed eruption of teeth Cystic hygroma Psychosis Short palm Natal tooth Abnormality of the dentition Aggressive behavior Supernumerary nipple Chronic otitis media Short middle phalanx of finger Inguinal hernia Cleft upper lip Antegonial notching of mandible Bidirectional ventricular ectopy Prominent frontal sinuses Prominent U wave Hydronephrosis Brachycephaly Gastroesophageal reflux Renal insufficiency Recurrent respiratory infections Dyspnea Midface retrusion Mandibular prognathia Cerebral cortical atrophy Developmental regression Constipation Obesity Slender long bone Periodic hyperkalemic paralysis Specific learning disability Scapular winging Short chin Cardiac arrest Short phalanx of finger Hypoplasia of dental enamel Palpitations Tetraparesis Renal hypoplasia Short metacarpal Oligodontia Syncope Hypoplasia of the maxilla Short foot Inability to walk Bulbous nose Tachycardia Paralysis Gait ataxia Delayed skeletal maturation Ventricular tachycardia Ventricular arrhythmia Short mandibular rami Long nose Periodic hypokalemic paresis Clinodactyly of the 5th toe Toe clinodactyly Delayed eruption of permanent teeth Periodic paralysis Scaphocephaly Hyperthyroidism Abnormal heart valve morphology Agenesis of permanent teeth Growth abnormality Prolonged QT interval Hyperkalemia High pitched voice Loss of consciousness 2-3 toe syndactyly Preauricular pit Myotonia Hypokalemia Short metatarsal Synophrys Chronic hepatic failure Poor speech Hypoplasia of the corpus callosum Pruritus Skin rash Abnormality of the liver Irritability Anxiety Osteopenia Headache Hypertonia Vomiting Tremor Nausea Hyperreflexia Anemia Cognitive impairment Spasticity Cataract Low 1-minute APGAR score Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis 2-3 toe cutaneous syndactyly Aplasia cutis congenita over the scalp vertex Dry skin Asthma Mitral atresia Abnormal posturing Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Folate deficiency Mood changes Generalized hypopigmentation Delayed myelination Fair hair Blue irides Poor coordination Iron deficiency anemia Scleroderma Malnutrition Spontaneous abortion Eczema Cerebral calcification Exodeviation Abnormal aortic arch morphology Flat face Apathy Abnormal myelination Advanced eruption of teeth Abnormal renal morphology Thickened helices Pulmonary artery stenosis Tracheomalacia Protruding tongue Bowel incontinence Impulsivity Self-injurious behavior U-Shaped upper lip vermilion Pyloric stenosis Stereotypy Hypoplasia of penis Tetralogy of Fallot Limitation of joint mobility Vesicoureteral reflux Macroglossia Renal cyst Downturned corners of mouth Bronchomalacia Conotruncal defect Decreased serum insulin-like growth factor 1 Short thumb Short proximal phalanx of finger Abnormal localization of kidney Recurrent hypoglycemia Bifid tongue Mitral stenosis Single umbilical artery Short finger Flat occiput Multicystic kidney dysplasia Cafe-au-lait spot Exaggerated cupid's bow Congenital diaphragmatic hernia Pulmonary hypoplasia Joint hypermobility Smooth philtrum Genu valgum Hip dislocation Small for gestational age Abnormality of the kidney Hypoglycemia Tracheobronchomalacia Tented upper lip vermilion Narrow palpebral fissure Fever Portal hypertension Ventricular hypertrophy Hyperammonemia Depressed nasal ridge Premature birth Ischemic stroke Patent foramen ovale Thick vermilion border Thick eyebrow Craniosynostosis Hand polydactyly High forehead Cutis marmorata Abnormality of the coagulation cascade Spastic diplegia Long philtrum Oligodactyly Intellectual disability, mild Progressive proximal muscle weakness Coarse hair Prominent occiput Right ventricular hypertrophy Hip dysplasia Recurrent otitis media Otitis media Dental malocclusion Hirsutism Feeding difficulties in infancy Severe global developmental delay Hepatic failure Ascites Distal/middle symphalangism of 5th finger Short middle phalanx of the 5th finger Mesoaxial foot polydactyly Symphalangism of the 5th finger Muscular ventricular septal defect Parasomnia No permanent dentition Mesoaxial hand polydactyly Triangular mouth Pulmonary arterial hypertension Myopia Ptosis Cupped ear Right ventricular failure Nail dysplasia Esophageal varix Postaxial polydactyly Oral cleft Narrow chest Cleft lip Hepatosplenomegaly Skeletal dysplasia Aplasia cutis congenita of scalp Postaxial hand polydactyly Respiratory insufficiency Hepatomegaly Cavernous hemangioma Hypersplenism Portal vein thrombosis Prominent scalp veins Cutis marmorata telangiectatica congenita Right atrial enlargement Limb undergrowth Short ribs Dystrophic toenail Complete atrioventricular canal defect Calcinosis Prominent superficial veins Partial atrioventricular canal defect Hypoplasia of the epiglottis Hydrometrocolpos Bilateral postaxial polydactyly Accessory oral frenulum Horizontal ribs Vaginal atresia Horseshoe kidney Thoracic dysplasia Median cleft lip Short clavicles Spinal canal stenosis Increased number of teeth Metaphyseal dysplasia Mesomelia Cone-shaped epiphysis Cutaneous syndactyly Long eyelashes Long palpebral fissure Pain Low-set, posteriorly rotated ears Full cheeks Iris coloboma Joint hyperflexibility Pectus carinatum Camptodactyly of finger Joint stiffness Hypertension Camptodactyly Retrognathia Abnormality of epiphysis morphology Myopathy Posteriorly rotated ears Pectus excavatum Edema Short neck Flexion contracture Encephalopathy Ossifying fibroma Hypertrichosis Wide anterior fontanel Gastrointestinal atresia Overriding aorta Ataxia 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 Ankyloglossia Short toe Thin eyebrow Short hallux Pierre-Robin sequence Glossoptosis Short humerus Dextrocardia Adducted thumb Calcinosis cutis Joint dislocation Anisometropia Abnormal conjunctiva morphology Central hypotonia Neoplasm Aganglionic megacolon Abnormality of the cardiovascular system Nevus Astigmatism Telecanthus Alopecia Feeding difficulties Proximal muscle weakness Eversion of lateral third of lower eyelids Lymphedema Abnormality of the breast Prominent fingertip pads Long hallux Sparse lateral eyebrow Short 5th finger Depressed nasal tip Short columella Neonatal hypoglycemia Hyperpigmentation of the skin Opacification of the corneal stroma Exstrophy Epispadias Laryngeal hypoplasia Epidermal nevus Abnormality of the bladder Parietal bossing Abnormality of the penis Epibulbar dermoid Fibroma Bladder exstrophy Abnormality of nervous system morphology Abnormality of the ear Lower limb asymmetry Eyelid coloboma Transient ischemic attack Arachnoid cyst Abnormality of the ureter Generalized hyperpigmentation Absent septum pellucidum Aplasia/Hypoplasia of the skin Multiple lipomas Maternal hyperphenylalaninemia



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