Congestive heart failure, and Prominent nose

Diseases related with Congestive heart failure and Prominent nose

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


Top matches:

High match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

High match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

High match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

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Other less relevant matches:

High match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

High match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

High match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

High match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Low match AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE


Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

Low match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Low match WARSAW BREAKAGE SYNDROME


A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Prominent nose

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect Abnormal facial shape Frontal bossing Generalized hypotonia Seizures Downslanted palpebral fissures Cataract Hypertelorism Intellectual disability Growth delay Macrotia Dilatation Cardiomegaly Thick lower lip vermilion Wide nose Hypertension Sensorineural hearing impairment Depressed nasal bridge Clubbing of fingers Micrognathia Round face Hearing impairment Postnatal growth retardation Hepatosplenomegaly Atrial septal defect Coarse facial features Short neck

Rare Symptoms - Less than 30% cases


Lymphadenopathy Skeletal muscle atrophy Respiratory insufficiency Splenomegaly Arrhythmia Hyperhidrosis Short nose Arthralgia Ptosis Skin rash Long philtrum Macroglossia Myopia Conductive hearing impairment Failure to thrive Macrocephaly Abnormality of skin pigmentation Increased antibody level in blood Tetralogy of Fallot Elevated erythrocyte sedimentation rate Microcytic anemia Abnormality of the skeletal system Muscle weakness Erythema nodosum Lipodystrophy Fever Stroke Cardiomyopathy Hip dislocation Clinodactyly Retrognathia Intrauterine growth retardation Bilateral sensorineural hearing impairment Scarring Strabismus Prominent forehead Abnormality of the liver Elevated hepatic transaminase Pulmonic stenosis Broad forehead Areflexia Epicanthus Delayed skeletal maturation Microcornea Hypertriglyceridemia Clinodactyly of the 5th finger High palate Prominent supraorbital ridges Deeply set eye Coloboma Specific learning disability Glomerulosclerosis Abnormal vertebral morphology Hypoplasia of the ulna Heart murmur Lymphedema Pigmentary retinopathy Vesicoureteral reflux Malnutrition Gastrointestinal hemorrhage Portal hypertension Multicystic kidney dysplasia Pointed chin Hemivertebrae Renal hypoplasia Abnormal form of the vertebral bodies Cholestasis Renal hypoplasia/aplasia Abnormality of the ribs Finger clinodactyly Spina bifida occulta Exotropia Corneal dystrophy Coarctation of aorta Hypercholesterolemia Nephrotic syndrome Renal dysplasia Delayed puberty Triangular face Posterior staphyloma Brachycephaly Upslanted palpebral fissure Visual loss Renal insufficiency Cryptorchidism Neoplasm Short 2nd toe Jaundice Scleral staphyloma Lop ear Lens luxation Short upper lip Colpocephaly Profound global developmental delay Acidosis Carcinoma Hypodontia Anal atresia Hypopigmentation of the skin Short distal phalanx of finger Flat face Hepatic failure Cirrhosis Stage 5 chronic kidney disease Chorioretinal atrophy Abnormality of the kidney Malabsorption Pruritus Short philtrum Retinopathy Craniosynostosis Protruding ear Vertebral segmentation defect Band keratopathy Long nose Severe platyspondyly Short phalanx of finger Decreased testicular size Growth hormone deficiency Small hand Dilated cardiomyopathy Hypogonadism Iliac crest serration Dysplastic sacrum Squared iliac bones Azoospermia Hypoplastic ischia Metaphyseal cupping Spondylometaphyseal dysplasia Delayed epiphyseal ossification Bell-shaped thorax Hypokinesia Deep philtrum Short long bone Tachypnea Hypergonadotropic hypogonadism Cerebral hemorrhage Short ribs Smooth philtrum Premature chromatid separation Small face Optic nerve coloboma Chromosome breakage 2-3 toe syndactyly Cutis marmorata Cupped ear Sloping forehead Single transverse palmar crease Wide mouth Premature graying of hair Syndactyly Microcephaly Moyamoya phenomenon Abnormal hand morphology Abnormality of the nares Broad finger Congenital ptosis Abnormal left ventricle morphology Stroke-like episode Wormian bones Wide anterior fontanel Prolonged neonatal jaundice Coronal craniosynostosis Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Pulmonary artery stenosis Abnormal anterior chamber morphology Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the ureter Renal tubular acidosis Keratoconus Telangiectasia of the skin Butterfly vertebrae Biliary atresia Large fontanelles Butterfly vertebral arch Pulmonary arterial hypertension Limb undergrowth Micromelia Narrow chest Platyspondyly Small for gestational age Microtia Muscular hypotonia of the trunk Anteverted nares Reduced number of intrahepatic bile ducts Neurogenic bladder Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Hypoplasia of teeth Agenesis of corpus callosum Congenital nystagmus Mandibular prognathia Otitis media Abnormality of the skin Urinary incontinence Full cheeks Hirsutism Pectus carinatum Umbilical hernia Inguinal hernia Osteoarthritis Gait disturbance Wide nasal bridge Abnormality of the Leydig cells Clubbing of toes Episodic fever Lipoatrophy Right bundle branch block Hyperostosis Abnormality of the cardiovascular system Thickened skin Abnormality of the face Thoracolumbar kyphosis Functional motor deficit Heparan sulfate excretion in urine Obstructive lung disease Thenar muscle atrophy Expressive language delay Flared nostrils Mucopolysacchariduria Wrist flexion contracture Abnormality of the skull Hoarse voice Papilledema Protuberant abdomen Rhinitis Abnormal heart valve morphology Short finger Bowel incontinence Multiple joint contractures Widely spaced teeth Subcutaneous nodule Arachnodactyly Dermatan sulfate excretion in urine Generalized neonatal hypotonia Hypertrophic cardiomyopathy Difficulty walking Posteriorly rotated ears Pes cavus Elevated serum creatine phosphokinase Kyphosis Scoliosis Right aortic arch Everted lower lip vermilion Perimembranous ventricular septal defect Secundum atrial septal defect Epiphyseal stippling Decreased fetal movement Severe global developmental delay High forehead Feeding difficulties Muscular hypotonia Synophrys Ventricular hypertrophy Arthrogryposis multiplex congenita Hyperplasia of the maxilla Abnormal pyramidal sign Joint stiffness Dislocation of toes Pugilistic facies Marked muscular hypertrophy Broad nail Progressive pes cavus Camptodactyly of toe Brachyturricephaly Mitral regurgitation Limited elbow movement Eclabion Broad palm Hallux valgus Skeletal muscle hypertrophy Abnormality of the voice Congenital hip dislocation Joint contracture of the hand Abnormality of mucopolysaccharide metabolism Tonsillitis Bowing of the legs Gait ataxia Corneal opacity Mental deterioration Intellectual disability, moderate Telecanthus Hydronephrosis Pes planus Autism Abnormal heart morphology Facial asymmetry Patent ductus arteriosus Absent speech Microphthalmia Intellectual disability, severe Hypoplasia of the corpus callosum Ventriculomegaly Talipes equinovarus Optic atrophy Dolichocephaly Joint hyperflexibility Visual impairment Short chin Unilateral renal agenesis Chorioretinal coloboma Aortic aneurysm Relative macrocephaly Genu varum Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Aortic regurgitation Short toe Long face Dental crowding Intellectual disability, profound Progressive visual loss Convex nasal ridge Renal agenesis Esotropia Highly arched eyebrow Iris coloboma Brachydactyly Spasticity Recurrent upper and lower respiratory tract infections Recurrent infections Inability to walk Camptodactyly of finger Erythema Arthritis Osteopenia Babinski sign Thrombocytopenia Edema Bone pain Flexion contracture Anemia Pain Ridged cranial sutures Abnormality of the Eustachian tube Abnormality of nasopharyngeal adenoids Restricted chest movement Incisional hernia Hyperpigmentation of the skin Lymphopenia Nystagmus Immune dysregulation Adipose tissue loss Finger swelling Stiff skin Episcleritis Panniculitis Hypochromic anemia Flexion contracture of toe Generalized lipodystrophy Abnormally large globe Elbow flexion contracture Myositis Rimmed vacuoles Basal ganglia calcification Hypermelanotic macule Long fingers Glucose intolerance Growth abnormality Conjunctivitis Hypoplasia of the cochlea



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