Congestive heart failure, and Postaxial hand polydactyly

Diseases related with Congestive heart failure and Postaxial hand polydactyly

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Postaxial hand polydactyly that can help you solving undiagnosed cases.


Top matches:

Medium match C SYNDROME


C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

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

Low match POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6


Related symptoms:

  • Abnormal facial shape
  • Hyperhidrosis
  • Postaxial hand polydactyly
  • Broad phalanges of the 5th finger


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

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Other less relevant matches:

Low match POSTAXIAL POLYDACTYLY TYPE A


Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial PolydactylyOther forms of postaxial polydactyly type A include PAPA2 (OMIM ) on chromosome 13q21; PAPA3 (OMIM ) on chromosome 19p13; PAPA4 (OMIM ) on chromosome 7q22; PAPA5 (OMIM ) on chromosome 13q13; PAPA6 (OMIM ), caused by mutation in the ZNF141 gene (OMIM ) on chromosome 4p16; PAPA7 (OMIM ), caused by mutation in the IQCE gene (OMIM ) on chromosome 7p22; and PAPA8 (OMIM ), caused by mutation in the GLI1 gene (OMIM ) on chromosome 12q13.

POSTAXIAL POLYDACTYLY TYPE A Is also known as postaxial polydactyly, type a|papa|polydactyly, postaxial

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Abnormality of the foot
  • Postaxial polydactyly
  • Postaxial hand polydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY TYPE A

Low match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Low match AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS


Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Low match 3MC SYNDROME 3; 3MC3


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

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 MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Postaxial hand polydactyly

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Postaxial hand polydactyly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect Low-set ears Growth delay Hypertelorism Congenital diaphragmatic hernia Syndactyly Short stature Anteverted nares Short neck Preaxial polydactyly Broad forehead Patent ductus arteriosus Intrauterine growth retardation Hernia Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Abnormal facial shape Micrognathia Generalized hypotonia Ptosis Seizures Hearing impairment Craniosynostosis Toe syndactyly Talipes Smooth philtrum Atrial septal defect Midface retrusion Hypospadias Strabismus Hand polydactyly Failure to thrive Omphalocele Hemivertebrae Renal agenesis Respiratory tract infection Polyhydramnios Posteriorly rotated ears Depressed nasal bridge Short nose Long philtrum Muscular hypotonia Clinodactyly Abnormal heart morphology Malar flattening Talipes equinovarus Hypertension Myopia Wide nasal bridge Microcephaly

Rare Symptoms - Less than 30% cases


Deeply set eye Micropenis Hyperactivity Inguinal hernia Abnormality of the pinna Intellectual disability, mild Thick vermilion border Triphalangeal thumb Highly arched eyebrow Respiratory insufficiency Premature birth Ventriculomegaly Prominent occiput Ectopic kidney Macrocephaly Abnormal cardiac septum morphology Cognitive impairment Blepharophimosis Abnormality of female internal genitalia Flat face Abnormality of the ribs Abnormality of the intervertebral disk Cataract Vertebral segmentation defect Skeletal dysplasia Pulmonary hypoplasia Short thorax Abnormality of the kidney Postnatal growth retardation Spina bifida Abnormal vertebral morphology Abnormal form of the vertebral bodies Finger syndactyly Small hand Hyperlordosis Umbilical hernia Severe short stature Kyphosis Muscular hypotonia of the trunk Bifid scrotum Missing ribs Unilateral renal agenesis Microretrognathia Narrow palpebral fissure Hydrocephalus Radioulnar synostosis Supernumerary nipple Clinodactyly of the 5th finger Postaxial polydactyly Oral cleft Limitation of joint mobility Agenesis of corpus callosum Motor delay Sacral dimple Epicanthus Micromelia High palate Hip dislocation Wide mouth Cleft lip Brachydactyly Limb undergrowth Multicystic kidney dysplasia Abnormality of immune system physiology Abnormality of the genital system Tetralogy of Fallot Spontaneous abortion Scrotal hypoplasia Abnormality of the genitourinary system Broad hallux Wormian bones Long fingers Overlapping toe Facial cleft 2-3 toe syndactyly Bilateral cleft lip and palate Urethral valve Caudal appendage Penoscrotal hypospadias Epicanthus inversus Skin dimples Bilateral conductive hearing impairment Diastasis recti Epiphyseal dysplasia Short 5th finger Bilateral cleft lip Broad foot Irregular vertebral endplates Self-injurious behavior Shawl scrotum Elbow dislocation Epiphyseal stippling Vertebral clefting Narrow nose Vestibular dysfunction Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Bowing of the legs Limited elbow movement Spondyloepiphyseal dysplasia Hypoplastic aortic arch Back pain Genu varum Growth abnormality Sleep apnea Coxa vara Myelopathy Flattened epiphysis Cleft upper lip Edema Overlapping fingers Otosclerosis Long neck Intellectual disability, moderate Telecanthus Conductive hearing impairment Depressivity Spotty hypopigmentation Cervical myelopathy Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Overfolded helix Anemia Prominent coccyx Transposition of the great arteries Esophageal atresia Anencephaly Abnormal tracheobronchial morphology Aplasia/Hypoplasia of the radius Absent radius Wheezing Occipital encephalocele Abnormality of epiphysis morphology Perineal fistula Asymmetric crying face Abnormality of the sternum Non-midline cleft lip Hypoplastic left heart Right bundle branch block Bundle branch block Patent urachus Aplasia/Hypoplasia of the lungs Single umbilical artery Preaxial hand polydactyly Abnormality of the urethra Abnormality of the nasopharynx Abnormal sacrum morphology Supernumerary ribs Tethered cord Cavernous hemangioma Ureteropelvic junction obstruction Lower limb undergrowth Anorectal anomaly Potter facies Abnormality of the pancreas Absence of the sacrum Hemifacial hypoplasia Atelectasis Rectovaginal fistula Duodenal atresia Abnormality of the gallbladder Tracheal stenosis Dextrocardia Tracheoesophageal fistula Laryngeal stenosis Anal atresia Wide nose Hypoplasia of penis Intestinal malrotation Vesicoureteral reflux Tachycardia Single transverse palmar crease Hypopigmentation of the skin Esotropia Ambiguous genitalia Facial asymmetry Wide intermamillary distance Dandy-Walker malformation Hydronephrosis Pneumonia Narrow forehead Aortic valve stenosis Dysphagia Bulbous nose Long face Laryngomalacia Short thumb Hypoplasia of the radius Tachypnea Abnormality of the outer ear Situs inversus totalis Abnormality of the skeletal system Hypoplasia of the corpus callosum Preauricular skin tag Hypertonia Ichthyosis Cerebral cortical atrophy Aggressive behavior Prominent nasal bridge Large fontanelles Renal dysplasia Recurrent urinary tract infections Choanal atresia Small nail Rhizomelia Recurrent respiratory infections Abnormality of the metaphysis Fused sternal ossification centers Everted lower lip vermilion Thick eyebrow Short philtrum Protruding ear High forehead Downslanted palpebral fissures Thick anterior alveolar ridges Hypodontia Midline facial capillary hemangioma Right-to-left shunt Hypoplasia of the ear cartilage Renal cortical cysts Conotruncal defect Pseudohypoaldosteronism Female pseudohermaphroditism Sleep disturbance Broad nasal tip Abnormality of the anus No permanent dentition Broad phalanges of the 5th finger Hyperhidrosis Distal/middle symphalangism of 5th finger Mesoaxial foot polydactyly Symphalangism of the 5th finger Muscular ventricular septal defect Parasomnia Mesoaxial hand polydactyly Coarctation of aorta Triangular mouth Persistence of primary teeth Short middle phalanx of the 5th finger Coarse hair Bicuspid aortic valve Finger clinodactyly Depressed nasal ridge Metopic synostosis Accessory oral frenulum Broad thumb Neonatal hypotonia Horseshoe kidney Bilateral single transverse palmar creases Gingival overgrowth Intellectual disability, profound Short metacarpal Hirsutism Thin vermilion border Proptosis Short chin Upslanted palpebral fissure Constipation Delayed skeletal maturation Pectus excavatum Intellectual disability, severe Hepatomegaly Flexion contracture Joint dislocation Cutis laxa Broad alveolar ridges Dislocated radial head Medulloblastoma Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the helix Abnormal hair pattern Postaxial foot polydactyly Anal stenosis Ulnar deviation of finger Biparietal narrowing Aplasia/Hypoplasia of the corpus callosum Multiple joint contractures Radial deviation of finger Clitoral hypertrophy Trigonocephaly Failure to thrive in infancy Redundant skin Renal hypoplasia/aplasia Abnormality of the foot Feeding difficulties Abnormal lung morphology Rib fusion Nystagmus Rib segmentation abnormalities Abnormality of the odontoid process Block vertebrae Cervical C2/C3 vertebral fusion Urogenital fistula Anomalous pulmonary venous return Disproportionate short-trunk short stature Muscle weakness Meningocele Double outlet right ventricle Abnormality of the ureter Abnormality of the urinary system Spina bifida occulta Scapular winging Confusion Sensorineural hearing impairment Pain Kyphoscoliosis Genu valgum Osteoarthritis Lumbar hyperlordosis High myopia Waddling gait Retinal detachment Retinal degeneration Paresthesia Narrow chest Gait disturbance Platyspondyly Pectus carinatum Autoimmunity Apnea Arthritis Glaucoma Respiratory distress Camptodactyly of finger Respiratory failure Delayed speech and language development Macrotia Underdeveloped nasal alae Renal cyst Tapered finger Attention deficit hyperactivity disorder Coloboma Autistic behavior EEG abnormality Gastroesophageal reflux Short toe Autism Obesity Recurrent infections Dilatation Microphthalmia Immunodeficiency Behavioral abnormality Psychosis Pointed chin Absent nasal bridge Arnold-Chiari type I malformation Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Multiple renal cysts Severe intrauterine growth retardation Severe combined immunodeficiency Aortic regurgitation Syringomyelia Long nose Combined immunodeficiency Anophthalmia Language impairment Bilateral ptosis Pyloric stenosis Olivopontocerebellar hypoplasia



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