Congestive heart failure, and Short foot

Diseases related with Congestive heart failure and Short foot

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


Top matches:

High match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

High match GELEOPHYSIC DYSPLASIA


Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA

High 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

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Other less relevant matches:

High match HENNEKAM SYNDROME


Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

High match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Low match GELEOPHYSIC DYSPLASIA 2; GPHYSD2


Related symptoms:

  • Short stature
  • Hypertelorism
  • Hepatomegaly
  • Respiratory insufficiency
  • Short nose


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 2; GPHYSD2

Low match SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


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}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Low match LAURIN-SANDROW SYNDROME


Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

Low match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

Low match ISOLATED SEDOHEPTULOKINASE DEFICIENCY


SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Short foot

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Small hand Common - Between 50% and 80% cases
Short palm Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Thin upper lip vermilion Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Short foot. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Abnormality of the dentition Talipes equinovarus Syndactyly Abnormal facial shape Seizures Global developmental delay Respiratory insufficiency Dilatation Long philtrum Delayed skeletal maturation Smooth philtrum Full cheeks Cryptorchidism Cognitive impairment Low-set ears Aortic valve stenosis High palate Myopia Scoliosis Ventriculomegaly Micrognathia Short nose Depressed nasal bridge Hearing impairment Hepatomegaly Bicuspid aortic valve Brachydactyly Respiratory distress Narrow mouth Camptodactyly of finger Anteverted nares Behavioral abnormality Delayed eruption of teeth Pectus excavatum Inguinal hernia Clinodactyly of the 5th finger Wide nasal bridge Epicanthus Ptosis Broad forehead Finger syndactyly Cleft palate Talipes Clinodactyly Respiratory tract infection Downturned corners of mouth

Rare Symptoms - Less than 30% cases


Narrow chest High pitched voice Oligodontia Feeding difficulties Renal hypoplasia Toe walking Muscular hypotonia Malar flattening Specific learning disability Ovoid vertebral bodies Mitral stenosis Hirsutism Thin vermilion border Bulbous nose Microcephaly Pulmonic stenosis Toe syndactyly Prominent nasal bridge Pain Fever Erysipelas Cone-shaped epiphysis Limb undergrowth Diarrhea Sensorineural hearing impairment Attention deficit hyperactivity disorder Hyperactivity Oral cleft Hypoplasia of the maxilla Round face Intellectual disability, mild Intellectual disability, severe Edema External ear malformation Broad foot Polydactyly Umbilical hernia Prominent forehead Flexion contracture Recurrent respiratory infections Hepatosplenomegaly Hypertension Joint contracture of the hand Hip dysplasia Joint stiffness Strabismus Osteopenia Short neck Upslanted palpebral fissure Narrow palm Striae distensae Impaired pain sensation Hypoventilation Psychotic episodes Pulmonary embolism Abnormality of lipid metabolism Iris hypopigmentation Myeloid leukemia Central hypotonia Overweight Hypopigmentation of hair Triangular mouth Oligomenorrhea Cor pulmonale Polyphagia Disseminated intravascular coagulation Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Generalized hypopigmentation Acrocyanosis Central adrenal insufficiency Hypothermia Ocular albinism Temperature instability Chromosome breakage Hypoplastic labia minora Hypoplasia of the fovea Narrow nasal bridge Increased body weight External genital hypoplasia Gastrointestinal hemorrhage Psychosis Type II diabetes mellitus Decreased fetal movement Oligohydramnios Narrow forehead Abnormality of the cardiovascular system Amenorrhea Febrile seizures Growth hormone deficiency Esotropia Sepsis Primary amenorrhea Hypopigmentation of the skin Sleep disturbance Tapered finger Polymicrogyria Arachnodactyly Infertility Genu valgum Delayed puberty Carious teeth Hypermetropia Cutaneous photosensitivity Clumsiness Truncal obesity Precocious puberty Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Large hands Emotional lability Radial deviation of finger Hyperinsulinemia Failure to thrive in infancy Insulin resistance Nasal speech Poor suck Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Almond-shaped palpebral fissure Bradycardia Hypopnea Preaxial hand polydactyly Poor gross motor coordination Proximal placement of thumb High forehead Recurrent infections Immunodeficiency Renal insufficiency Macrocephaly Anemia Limited elbow movement Thick hair Cutis marmorata Finger clinodactyly Hepatitis Low anterior hairline Long eyelashes Hypertrichosis Highly arched eyebrow Thick eyebrow Poor speech Synophrys Abnormal cardiac septum morphology Postnatal growth retardation Arthrogryposis multiplex congenita Hypotelorism Gastroesophageal reflux Recurrent hypoglycemia Abnormality of globe location Neonatal asphyxia Abnormal CNS myelination Postprandial hyperglycemia Hypochromic anemia Subcortical cerebral atrophy Abnormality of the renal tubule Hypochromic microcytic anemia Cholestatic liver disease Breech presentation Cholestasis Diastasis recti Severe postnatal growth retardation Shallow orbits Steatorrhea Hyperglycemia Portal hypertension Adducted thumb Arnold-Chiari malformation Chronic diarrhea Large fontanelles Feeding difficulties in infancy Brachycephaly Acromicria Elevated serum creatinine Prominent nose Limitation of joint mobility Gliosis Postaxial polydactyly Hydrocephalus Chronic tubulointerstitial nephritis Short iliac bones Pes valgus Thoracic dysplasia Glomerulonephritis Depressed nasal ridge Metaphyseal widening Short ribs Rhizomelia Stage 5 chronic kidney disease Cleft lip Proteinuria Cataract Mitral regurgitation Pulmonary arterial hypertension Mitral valve prolapse Underdeveloped nasal alae Heterotopia Mirror image polydactyly Short columella Fibular duplication Limb duplication Rudimentary to absent tibiae Premature atrial contractions Absent tibia Patellar aplasia Abnormality of the nose Preaxial foot polydactyly Abnormality of the wrist Absent radius Abnormality of the face Aplasia/Hypoplasia of the thumb Tarsal synostosis Hallux valgus Short middle phalanx of finger Dolichocephaly Triphalangeal thumb Hand polydactyly Preaxial polydactyly Abnormality of the metacarpal bones Aplasia/Hypoplasia of the corpus callosum Pruritus Protein-losing enteropathy Leukemia Decreased body weight Short metatarsal Growth abnormality Ventricular arrhythmia Ventricular tachycardia Scapular winging Short chin Cardiac arrest Short phalanx of finger Hypoplasia of dental enamel Myotonia Palpitations Tetraparesis Short palpebral fissure Coarctation of aorta Short metacarpal Syncope Triangular face Inability to walk Tachycardia Hypokalemia Preauricular pit Blepharophimosis Persistence of primary teeth Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Toe clinodactyly Delayed eruption of permanent teeth Periodic paralysis 2-3 toe syndactyly Scaphocephaly Hyperthyroidism Abnormal heart valve morphology Slender long bone Long nose Agenesis of permanent teeth Prolonged QT interval Hyperkalemia Loss of consciousness Facial asymmetry Paralysis Ventricular septal defect Shawl scrotum Ventricular hypertrophy Cardiomegaly Wide mouth Severe short stature Abnormal vertebral segmentation and fusion Abnormality of the cervical spine High anterior hairline Genu recurvatum Megalocornea Broad palm Thickened skin Hyperextensible skin Single transverse palmar crease Everted lower lip vermilion Cleft upper lip Joint hyperflexibility Low-set, posteriorly rotated ears Pes planus Abnormality of cardiovascular system morphology Downslanted palpebral fissures Small nail Coxa valga Joint laxity J-shaped sella turcica Gait ataxia Arrhythmia Depressivity Abnormality of the skeletal system Muscle weakness Ataxia Short metacarpals with rounded proximal ends Irregular capital femoral epiphysis Tricuspid stenosis Tip-toe gait Aortic regurgitation Wrist flexion contracture Hypoplasia of the capital femoral epiphysis Thickened helices Lack of skin elasticity Dysostosis multiplex Tracheal stenosis Right ventricular hypertrophy Bilateral talipes equinovarus Short long bone Prominent U wave Atrial septal defect Stroke Pulmonary lymphangiectasia Generalized hypotonia Pleural lymphangiectasia Pericardial lymphangiectasia Thyroid lymphangiectasia Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Lymphangioma Neoplasm Intestinal lymphangiectasia Abnormal oral mucosa morphology Primary hypothyroidism Chylothorax Rectal prolapse Periorbital edema Generalized edema Hypoproteinemia Sparse axillary hair Nystagmus Failure to thrive Arteriovenous malformation Respiratory failure Abnormality of the pinna Apnea Abnormality of the nervous system Neonatal hypotonia Hypoglycemia Photophobia Autism Weight loss Micropenis Diabetes mellitus Delayed speech and language development Hypogonadism Osteoporosis Hyporeflexia Obesity Kyphosis Vomiting Myopathy Intrauterine growth retardation Motor delay Nonimmune hydrops fetalis Hypoplastic iliac wing Splenomegaly Craniosynostosis Decreased antibody level in blood Vesicoureteral reflux Ascites Flat face Lymphadenopathy Abnormality of the foot Malabsorption Microtia Short philtrum Abnormality of the kidney Gingival overgrowth Camptodactyly Intellectual disability, moderate Hydronephrosis Conductive hearing impairment Retrognathia Polyhydramnios Hypothyroidism Glaucoma Midface retrusion Pachygyria Lymphedema Edema of the lower limbs Hypoalbuminemia Polysplenia Coronal craniosynostosis Palpebral edema Increased number of teeth Cutaneous finger syndactyly Pericardial effusion Ectopic kidney Abnormality of dental morphology Pleural effusion Pyloric stenosis Hydrops fetalis Reduced number of teeth Cutaneous syndactyly Abnormal intestine morphology Spina bifida occulta Narrow palate Horseshoe kidney Hypocalcemia Bilateral single transverse palmar creases Lymphopenia Increased urinary sedoheptulose



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