Congestive heart failure, and Abdominal distention

Diseases related with Congestive heart failure and Abdominal distention

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


Top matches:

Medium match MCCUNE-ALBRIGHT SYNDROME; MAS


Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

Medium 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

Medium match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

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Other less relevant matches:

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Medium match D-BIFUNCTIONAL PROTEIN DEFICIENCY


D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Medium match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

Medium match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

Medium match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Medium match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Medium match MUCOLIPIDOSIS TYPE II


Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

MUCOLIPIDOSIS TYPE II Is also known as i-cell disease|ml ii|mucolipidosis ii|n-acetylglucosamine 1-phosphotransferase deficiency|mucolipidosis type ii alpha/beta|ml ii alpha/beta|icd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUCOLIPIDOSIS TYPE II

Top 5 symptoms//phenotypes associated to Congestive heart failure and Abdominal distention

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Protuberant abdomen Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Growth delay Generalized hypotonia Intellectual disability Seizures Osteopenia Hepatosplenomegaly Frontal bossing Strabismus Scoliosis Abnormality of the skeletal system Cardiomyopathy Splenomegaly Kyphosis Hyperlordosis Pneumonia Mucopolysacchariduria Long philtrum Ataxia Epicanthus Nystagmus Dementia Recurrent respiratory infections Wide nasal bridge Macrocephaly Abnormal heart valve morphology Scaphocephaly Short neck Talipes equinovarus Inguinal hernia Reduced bone mineral density Coarse facial features Postnatal growth retardation Delayed skeletal maturation Osteoporosis Hirsutism Joint stiffness Neonatal hypotonia High forehead Myopia Blindness Severe short stature Motor delay Corneal opacity Dolichocephaly Pathologic fracture Hypertelorism Hypothyroidism Ascites High palate Vomiting

Rare Symptoms - Less than 30% cases


Chronic kidney disease Abnormal diaphysis morphology Pointed chin Delayed puberty Recurrent infections Arrhythmia Diabetes mellitus Elevated hepatic transaminase Dilatation Astigmatism Acanthosis nigricans Cyanosis High pitched voice Brain atrophy Insulin resistance Prominent superficial veins Epidermal acanthosis Opacification of the corneal stroma Hip dislocation Hepatic fibrosis Growth hormone deficiency Spasticity Muscle weakness Hypodontia Cirrhosis Hypertension Weight loss Atherosclerosis Protruding ear Abnormality of the dentition Cognitive impairment Thoracic hypoplasia Dysostosis multiplex Neoplasm Encephalitis Generalized hirsutism Gingival overgrowth Anteverted nares Renal insufficiency Heterotopia Abnormality of epiphysis morphology Hernia Abnormal form of the vertebral bodies Cardiomegaly Macroglossia Joint laxity Stage 5 chronic kidney disease Developmental regression Hypertrophic cardiomyopathy Anemia Split hand Hepatic steatosis Atlantoaxial dislocation Thin skin Sparse and thin eyebrow Hyperlipidemia Abnormality of the metaphysis Nephropathy Pericardial effusion Fine hair Abnormality of the thorax Microdontia Diarrhea Skeletal muscle atrophy Optic atrophy Cerebellar atrophy Abnormality of skin pigmentation Pectus excavatum Proteinuria Severe global developmental delay Gliosis Thrombocytopenia Depressivity Hearing impairment Hypoplasia of the corpus callosum Incisional hernia Mandibular prognathia Umbilical hernia Full cheeks Abnormality of the skin Abnormality of the cardiovascular system Osteoarthritis Thickened skin Widely spaced teeth Prominent supraorbital ridges Aspiration Nevus Infertility Ovoid vertebral bodies Autoimmunity Hoarse voice Feeding difficulties Ventriculomegaly Muscular hypotonia Hypogonadism Intrauterine growth retardation Decreased beta-galactosidase activity Short long bone Metaphyseal widening Heart murmur Fatigue Flared metaphysis Vertebral fusion Thickened calvaria Abnormality of ganglioside metabolism Broad toe Cerebral degeneration Myoclonus Thickened ribs Abnormality of the scrotum Slow-growing hair Angiokeratoma corporis diffusum Hypoplasia of the odontoid process Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Exaggerated startle response Psychomotor deterioration Corneal dystrophy Dyspnea Abdominal pain Short palm Apraxia Syncope Parkinsonism Anterior pituitary dysgenesis Nephrosclerosis Generalized myoclonic seizures Abnormal bleeding Hematuria Bruising susceptibility Lateral displacement of the femoral head Respiratory tract infection Retinal degeneration Wide intermamillary distance Abnormality of the retinal vasculature Hip dysplasia Narrow forehead Lymphadenopathy Recurrent otitis media Abnormality of eye movement Neurological speech impairment Recurrent pneumonia Abnormality of the eye Congenital hip dislocation Arthritis Aortic regurgitation EEG abnormality Aplasia/Hypoplasia of the abdominal wall musculature Megalocornea Palpebral edema Bullet-shaped phalanges of the hand Broad alveolar ridges Camptodactyly of finger Large sella turcica Arthralgia Thoracolumbar kyphoscoliosis Skeletal dysplasia Macrotia Urinary glycosaminoglycan excretion Increased serum beta-hexosaminidase Increased serum iduronate sulfatase activity Deficiency of N-acetylglucosamine-1-phosphotransferase Thin nail Dilated cardiomyopathy Interstitial pneumonitis Short nail Dystonia Tremor Progressive alveolar ridge hypertropy Hyperreflexia Varus deformity of humeral neck Tubulointerstitial abnormality Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Renal magnesium wasting Cavernous hemangioma Abnormality of movement Beaking of vertebral bodies T12-L3 Diastasis recti Sagittal craniosynostosis Beaking of vertebral bodies Generalized dystonia Bundle branch block Hepatic cysts Severe postnatal growth retardation Abnormality of the abdominal wall Pulmonary arterial hypertension Abnormality of the urinary system Flattened epiphysis Radial bowing Corneal erosion Neurodegeneration Flat acetabular roof Recurrent bronchitis Hypoplastic scapulae Lack of skin elasticity Flared iliac wings Abnormality of the rib cage Hypertrichosis Depressed nasal ridge Myelopathy Carpal bone hypoplasia Abnormality of nervous system morphology Broad nasal tip Pancytopenia Osteolysis Epistaxis Thin upper lip vermilion Lymphoproliferative disorder Abnormal cerebellum morphology Neutropenia Villous atrophy Bulbous nose Malabsorption Platyspondyly Cerebral ischemia Stroke Scarring Abnormality of the kidney Precocious atherosclerosis Migraine Subvalvular aortic stenosis Dentinogenesis imperfecta Headache Cellular immunodeficiency Immunodeficiency Right ventricular cardiomyopathy Arteriosclerosis Fever Elevated serum creatinine Hypoplasia of the capital femoral epiphysis Multiple lentigines Horizontal supranuclear gaze palsy B-cell lymphoma Premature birth Hematological neoplasm Multiple cafe-au-lait spots Focal segmental glomerulosclerosis Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Emphysema Combined immunodeficiency Hypermelanotic macule Steatorrhea Coarse hair Azoospermia Glomerulopathy Lymphoma Bone marrow hypocellularity Lymphopenia Abnormality of the vasculature Abnormal lung morphology Transient ischemic attack Intellectual disability, profound Thoracic kyphosis Lumbar hyperlordosis Nephrotic syndrome Decreased testicular size Waddling gait Disproportionate short-trunk short stature Cardiac valve calcification Decreased beta-glucocerebrosidase protein and activity Progressive neurologic deterioration Moyamoya phenomenon Aseptic necrosis Exertional dyspnea Interstitial pulmonary abnormality Abnormal immunoglobulin level Petechiae Abnormality of coagulation Increased antibody level in blood Osteomyelitis Menorrhagia Leukocytosis Clubbing Portal hypertension Hepatocellular carcinoma Cholelithiasis Increased susceptibility to fractures Leukopenia Oculomotor apraxia Premature arteriosclerosis Spondyloepiphyseal dysplasia Spastic paraparesis Meningitis Increased bone mineral density Bone pain Anorexia Decreased body weight Gingival bleeding Bipolar affective disorder Puberty and gonadal disorders Fractures of the long bones Steroid-resistant nephrotic syndrome Shallow acetabular fossae Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Orthopnea Increased thyroid-stimulating hormone level Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Hypersplenism Increased serum ferritin Encephalomalacia Esodeviation Periorbital edema Generalized osteosclerosis Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Abnormal T cell morphology Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Abnormal toenail morphology Cerebral hypoplasia Anodontia Dysarthria Increased body weight Dental crowding Type II diabetes mellitus Pigmentary retinopathy Overgrowth Decreased antibody level in blood Triangular face Small for gestational age Broad forehead Retinopathy Intellectual disability, moderate Abnormality of the nervous system Edema Ridged cranial sutures Cachexia Abnormality of the Eustachian tube Abnormality of nasopharyngeal adenoids Restricted chest movement Recurrent upper and lower respiratory tract infections Tonsillitis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Functional motor deficit Heparan sulfate excretion in urine Obstructive lung disease Thenar muscle atrophy Expressive language delay Flared nostrils Reduced tendon reflexes Premature ovarian insufficiency Thoracolumbar kyphosis Dysphagia Ventricular hypertrophy Sudden cardiac death Generalized muscle weakness Tachycardia Spastic paraplegia Muscular dystrophy Distal muscle weakness Myalgia Proximal muscle weakness Rigidity Constipation Elevated serum creatine phosphokinase Myopathy Flexion contracture Nephroblastoma Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Myocardial fibrosis Microglossia Insulin-resistant diabetes mellitus Pericarditis Slender long bone Pulmonary fibrosis Wrist flexion contracture Clubbing of fingers Hypertriglyceridemia Elevated alkaline phosphatase Osteomalacia Hyperthyroidism Hyperparathyroidism Freckling Abnormality of the thyroid gland Neurofibromas Hypophosphatemia Adrenal insufficiency Hyperostosis Acne Rickets Hypercalcemia Precocious puberty Hypercalciuria Syringomyelia Goiter Neoplasm of the skin Nephrocalcinosis Gynecomastia Decreased liver function Cafe-au-lait spot Tall stature Nephrolithiasis Primary amenorrhea Amenorrhea Facial asymmetry Synophrys Hyperactivity Growth hormone excess Increased circulating cortisol level Abnormality of the skull Monostotic fibrous dysplasia Papilledema Rhinitis Short finger Bowel incontinence Multiple joint contractures Otitis media Prominent nose Urinary incontinence Pectus carinatum Conductive hearing impairment Intellectual disability, mild Gait disturbance Sensorineural hearing impairment Large cafe-au-lait macules with irregular margins Prolactin excess Precocious puberty in females Polyostotic fibrous dysplasia Thyroid nodule Axillary freckling Myelofibrosis Multinodular goiter Hamartomatous polyposis Pseudohypoparathyroidism Ovarian cyst Craniofacial hyperostosis Intestinal polyposis Pituitary hypothyroidism Osteosarcoma Pituitary adenoma Atrial fibrillation Palpitations Tubulointerstitial nephritis Chylous ascites Craniosynostosis Telecanthus Photophobia Respiratory failure Clinodactyly of the 5th finger Clinodactyly Abnormality of cardiovascular system morphology Brachydactyly Microcephaly Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Renal cortical microcysts Cerebral dysmyelination Finger syndactyly Enterocolitis Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Primary adrenal insufficiency Cortical dysplasia Delayed cranial suture closure Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Hammertoe Decreased nerve conduction velocity Sparse hair Narrow chest Large fontanelles Abnormality of dental enamel Taurodontia Fibular hypoplasia Short humerus High hypermetropia Prominent occiput Short thorax Abnormality of dental morphology Cupped ear Radial deviation of finger Redundant skin Bicuspid aortic valve Cutis laxa Abnormality of the fingernails Hypocalcemia Joint hyperflexibility Short ribs Short toe Rhizomelia Hypoplasia of dental enamel Omphalocele Hypotelorism Limb undergrowth Ectodermal dysplasia Single transverse palmar crease Everted lower lip vermilion High, narrow palate Retinal dystrophy Short distal phalanx of finger Hepatic failure Progressive hearing impairment Pachygyria Long eyelashes Skeletal muscle hypertrophy Ileus Exercise-induced myalgia Supraventricular tachycardia Progressive proximal muscle weakness IgA deficiency Secondary amenorrhea Lipoatrophy Spinal rigidity Reduced subcutaneous adipose tissue Prolonged QT interval Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Cutis marmorata Ventricular fibrillation Prolonged QTc interval Failure to thrive in infancy Lipodystrophy Hyperinsulinemia Pyloric stenosis Polycystic ovaries Ventricular arrhythmia Delayed gross motor development Ventricular tachycardia Pancreatitis Accelerated skeletal maturation Recurrent bacterial infections Exercise intolerance Muscle stiffness Bradycardia Generalized lipodystrophy Dysmenorrhea Cholestasis Visual impairment Peripheral demyelination Progressive visual loss Renal cyst Polymicrogyria Talipes Abnormality of the cerebral white matter Abnormality of the liver Feeding difficulties in infancy Retrognathia Polyhydramnios Upslanted palpebral fissure Visual loss Hypospadias Low-set ears Loss of subcutaneous adipose tissue in limbs Cataract Micrognathia Adipose tissue loss Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Congenital generalized lipodystrophy Atlantoaxial instability Polymorphic ventricular tachycardia Abnormal levels of creatine kinase in blood Fasting hyperinsulinemia Lower thoracic interpediculate narrowness



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