Abnormal facial shape, and Atherosclerosis

Diseases related with Abnormal facial shape and Atherosclerosis

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Atherosclerosis that can help you solving undiagnosed cases.


Top matches:

Low match AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY


Related symptoms:

  • Micrognathia
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

Low match GALACTOSIALIDOSIS


Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

Low match HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS


Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

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Other less relevant matches:

Low match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Low match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Low match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Low match OGDEN SYNDROME


Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OGDEN SYNDROME

Low match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA


Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Atherosclerosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Atherosclerosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Insulin resistance Intellectual disability Seizures Reduced subcutaneous adipose tissue Generalized hypotonia Lipodystrophy Global developmental delay Myopathy Hypertriglyceridemia Congestive heart failure Proteinuria Diabetes mellitus Hepatomegaly Abnormality of the dentition Hyperkeratosis Ataxia Anemia Edema Hernia Osteoporosis Inguinal hernia Muscular hypotonia Coarse facial features Skeletal muscle atrophy Neoplasm Mental deterioration Renal insufficiency Failure to thrive Nephropathy Proptosis Hydrops fetalis Muscle weakness Visual impairment Increased facial adipose tissue Micrognathia Increased adipose tissue around the neck Hyperlipidemia Splenomegaly Hepatic steatosis Round face Thin skin Acanthosis nigricans Pancreatitis Lipoatrophy Aplasia/Hypoplasia of the skin Secondary amenorrhea Progeroid facial appearance Osteolytic defects of the phalanges of the hand Xanthomatosis Alopecia Loss of subcutaneous adipose tissue in limbs Narrow nasal ridge

Rare Symptoms - Less than 30% cases


Low-set ears Small hand Absent eyebrow Peripheral arterial stenosis Lethargy Chronic kidney disease Peripheral neuropathy Sparse and thin eyebrow Abnormality of skin pigmentation Prominent superficial veins Cardiomyopathy Tremor Flexion contracture Hypotrichosis Hyperglycemia Hematuria Carcinoma Spontaneous abortion Sparse hair Hyperuricemia Arthritis Postnatal growth retardation Dermal atrophy High pitched voice Prematurely aged appearance Osteopenia High palate Insulin-resistant diabetes mellitus Full cheeks Recurrent infections Behavioral abnormality Hyperinsulinemia Short clavicles Microcephaly Acidosis Scoliosis Nystagmus Delayed puberty Premature loss of teeth Macrotia Arteriosclerosis Focal segmental glomerulosclerosis Metabolic acidosis Narrow nose Glomerulosclerosis Generalized lipodystrophy Myocardial infarction Laryngomalacia Waddling gait Skeletal dysplasia Myoclonus Dilatation Visual loss Thrombocytopenia Depressed nasal bridge Pulmonary artery stenosis Pain Increased intraabdominal fat Acroosteolysis of distal phalanges (feet) Minimal subcutaneous fat Slurred speech Abnormality of the nervous system Dysmenorrhea Abnormality of the skeletal system Advanced eruption of teeth Decreased HDL cholesterol concentration Coronary artery atherosclerosis Premature graying of hair Skeletal muscle hypertrophy Polycystic ovaries Generalized hirsutism Abnormality of the nail Hypertrophic cardiomyopathy Myalgia Hepatosplenomegaly High forehead Abnormality of the kidney Epicanthus Epidermal acanthosis Abnormality of retinal pigmentation Pectus carinatum Convex nasal ridge Corneal opacity Foam cells Nonimmune hydrops fetalis Dysostosis multiplex Cherry red spot of the macula Dementia Vacuolated lymphocytes Sparse scalp hair Retinal degeneration Retinopathy Telangiectasia Joint stiffness Cardiomegaly Wide nasal bridge Ascites Delayed cranial suture closure White forelock Slender build Abnormality of the testis Feeding difficulties Thyroid carcinoma Aplasia/Hypoplasia of the testes Enlarged joints Acral lentiginous melanoma Cutaneous melanoma Pili torti Subcutaneous calcification Chorioretinitis Soft tissue sarcoma Neoplasm of the small intestine Gastrointestinal carcinoma Neoplasm of the oral cavity Premature arteriosclerosis Abnormal hair whorl Poliosis Type I diabetes mellitus Chondrocalcinosis Coma Hypergonadotropic hypogonadism Hoarse voice Increased bone mineral density Narrow face Abnormality of the hair Skin ulcer Decreased body weight Type II diabetes mellitus Decreased testicular size Chest pain Hypopigmentation of the skin Macular degeneration Leukemia Micropenis Hypogonadism Rod-cone dystrophy Facial wrinkling Enlarged naris Abnormality of the forehead Abnormal head movements Cardiogenic shock Abnormality of the nares Hydrocephalus Melanoma Lack of skin elasticity Scleroderma Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Meningioma Posterior subcapsular cataract Neoplasm of the lung Alopecia of scalp Subcapsular cataract Ovarian neoplasm Myeloid leukemia Telangiectasia of the skin Breast carcinoma Decreased fertility Polyphagia Squamous cell carcinoma Polyuria Rocker bottom foot Abnormality of the thorax Polydipsia Myelodysplasia Abnormality of the voice Sarcoma Respiratory insufficiency Gastritis Intellectual disability, severe Muscular dystrophy Hyperpigmentation of the skin Dental crowding Large fontanelles Nephrotic syndrome Abnormality of the cardiovascular system Abnormality of the skin Dental malocclusion Sepsis Short distal phalanx of finger Nail dystrophy Scarring Wormian bones Paralysis Proximal muscle weakness Rigidity Retrognathia Narrow mouth Hypospadias Short nose Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Increased body weight Osteolysis Cystathioninuria Hematemesis Foamy urine Progressive clavicular acroosteolysis Abnormality of the fingertips Foot pain Thin clavicles Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Bird-like facies Mottled pigmentation Breast aplasia Congenital muscular dystrophy Wide cranial sutures Broad distal phalanx of finger Hypoplasia of teeth Calcinosis Vertebral compression fractures Down-sloping shoulders Arthropathy Spinal rigidity Hypermelanotic macule Glucose intolerance Hyperostosis Hypomethioninemia Vitamin B12 deficiency Depressivity Unsteady gait Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Aciduria Urinary incontinence Neutropenia Hemolytic anemia Joint hypermobility Long face Paresthesia Confusion Psychosis Smooth philtrum Lower limb muscle weakness Malabsorption Congenital cataract Hip dislocation Feeding difficulties in infancy Difficulty walking Reduced visual acuity Gait ataxia Weight loss Cerebral cortical atrophy Pancytopenia Pulmonary arterial hypertension Decreased methionine synthase activity Premature coronary artery atherosclerosis Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Myelopathy Broad-based gait Homocystinuria Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Disproportionate tall stature Apathy Ectopia lentis Hemiplegia Anorexia Recurrent urinary tract infections Capillary malformation Osteopoikilosis Everted upper lip vermilion Nephrocalcinosis Hepatocellular carcinoma Protuberant abdomen Renal tubular acidosis Prolonged bleeding time Decreased muscle mass Portal hypertension Elevated alkaline phosphatase Hypercalciuria Venous thrombosis Nephrolithiasis Gout Epistaxis Hepatitis Abnormal bleeding Hepatic failure Lactic acidosis Elevated hepatic transaminase Hypoglycemia Recurrent respiratory infections Diarrhea Enlarged kidney Neoplasm of the liver Telangiectasia of extensor surfaces Chronic hepatitis Blindness Hyperreflexia Sensorineural hearing impairment Hypocitraturia Hepatocellular adenoma Doll-like facies Lipemia retinalis Distal renal tubular acidosis Chronic pancreatitis Hepatoblastoma Breathing dysregulation Decreased glomerular filtration rate Intermittent diarrhea Xanthelasma Microalbuminuria Hypoglycemic seizures Pyelonephritis Enterocolitis Skeletal myopathy Fasting hypoglycemia Cognitive impairment Facial telangiectasia in butterfly midface distribution Dyspnea Arthralgia Visceromegaly Abnormality of the vertebral column Spondyloepiphyseal dysplasia Hemangioma Aortic regurgitation Opacification of the corneal stroma Abnormal vertebral morphology Progressive neurologic deterioration Inability to walk Severe short stature Conjunctival telangiectasia Proximal upper limb muscle hypertrophy Muscle hypertrophy of the lower extremities Decreased adiponectin level Accelerated atherosclerosis Decreased serum leptin Abnormal atrioventricular conduction Supraventricular arrhythmia Precocious atherosclerosis Ventricular arrhythmia Hemophagocytosis Mucopolysacchariduria Epidermal hyperkeratosis Glomerulonephritis Choroid plexus calcification Pulmonary lymphangiectasia Oval face Membranoproliferative glomerulonephritis Hydrocele testis Absent eyelashes Palpebral edema Freckling Long nose Pyloric stenosis Angiokeratoma Sparse eyelashes Lymphedema Eczema Broad nasal tip Thick vermilion border Stage 5 chronic kidney disease Prominent nasal bridge Mandibular prognathia Decreased beta-galactosidase activity Arthralgia of the hip Kyphosis Abnormality of movement Acetabular dysplasia Neonatal hypotonia Fine hair Narrow forehead Underdeveloped nasal alae Highly arched eyebrow High, narrow palate Tachycardia Abnormality of the foot Autistic behavior Muscular hypotonia of the trunk Deeply set eye Stereotypy Thin upper lip vermilion Prominent forehead Delayed skeletal maturation Arrhythmia Encephalopathy Midface retrusion Cerebral atrophy Hypertonia Atrial septal defect Long eyelashes Low anterior hairline Ventricular septal defect Aplasia/Hypoplasia of the eyebrow Unilateral cryptorchidism Torsade de pointes Supraventricular tachycardia Thick upper lip vermilion Shuffling gait Excessive daytime somnolence Ventricular extrasystoles Short columella Poor eye contact Broad hallux Microretrognathia Redundant skin Deep philtrum Coarse hair Delayed gross motor development Scrotal hypoplasia Shock Cutis laxa Ventricular tachycardia Torticollis Ventriculomegaly Frontal bossing Dysmetria Barrel-shaped chest Infertility Narrow chest Papule Pectus excavatum Obesity Urinary excretion of sialylated oligosaccharides Increased urinary O-linked sialopeptides Bone-marrow foam cells Facial edema Thoracic kyphosis Hirsutism Hand tremor Syringomyelia Epiphyseal stippling Hyperactive deep tendon reflexes Choreoathetosis Progressive visual loss Progressive cerebellar ataxia Neurodegeneration Falls Thin vermilion border Cranial nerve paralysis Downslanted palpebral fissures Adipose tissue loss Cryptorchidism Hypertelorism Increased intramuscular fat Labial pseudohypertrophy Myelin tomacula Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Sunken cheeks Abnormality of complement system Abnormality of skeletal muscle fiber size Cellulitis Eclampsia Congenital generalized lipodystrophy Absence of subcutaneous fat Abnormality of the menstrual cycle Acute pancreatitis Hyperlipoproteinemia Angina pectoris Maternal diabetes Abnormality of lipid metabolism Glomerulopathy Stiff elbow



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Gynecomastia, related diseases and genetic alterations Ventricular septal defect and Apnea, related diseases and genetic alterations Myopathy and Decreased fetal movement, related diseases and genetic alterations Low-set ears and Talipes, related diseases and genetic alterations Muscle weakness and Coronary artery atherosclerosis, related diseases and genetic alterations

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