Micrognathia, and Atherosclerosis

Diseases related with Micrognathia and Atherosclerosis

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

Top matches:

Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.

NESTOR-GUILLERMO PROGERIA SYNDROME Is also known as progeria syndrome, childhood-onset, with osteolysis|ngps|pscoo

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NESTOR-GUILLERMO PROGERIA SYNDROME

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

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

Other less relevant matches:

Low match LATHOSTEROLOSIS

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

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 GAPO SYNDROME

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

GAPO SYNDROME Is also known as growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|odontotrichomelic syndrome|growth retardation, alopecia, pseudoanodontia, and optic atrophy

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAPO SYNDROME

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

Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Atherosclerosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Hypertriglyceridemia Common - Between 50% and 80% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Atherosclerosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Lipoatrophy Thin skin Intellectual disability Insulin resistance Osteolytic defects of the phalanges of the hand Hearing impairment Congestive heart failure Proptosis Diabetes mellitus Osteoporosis Abnormality of the skeletal system Failure to thrive Reduced subcutaneous adipose tissue Hepatomegaly Acanthosis nigricans Hyperinsulinemia Lipodystrophy Alopecia Hypotrichosis Hepatic steatosis Prominent superficial veins Short clavicles Thin vermilion border Coronary artery atherosclerosis Flexion contracture Scoliosis Midface retrusion Joint stiffness Convex nasal ridge Cataract Sparse and thin eyebrow Skeletal muscle atrophy Delayed eruption of teeth Hyperlipidemia Increased facial adipose tissue Cardiomyopathy Delayed puberty Hyperglycemia Myocardial infarction Abnormality of the thorax Prematurely aged appearance Frontal bossing Insulin-resistant diabetes mellitus Hypertelorism Conductive hearing impairment Full cheeks Long philtrum Short nose Anteverted nares Wide nasal bridge High palate Abnormal facial shape Hypogonadism Generalized hypotonia Global developmental delay Depressed nasal bridge Loss of subcutaneous adipose tissue in limbs Arrhythmia Prominent forehead Generalized lipodystrophy Angina pectoris Dysmenorrhea Increased adipose tissue around the neck Narrow nasal ridge Secondary amenorrhea Dyspnea Dental crowding Osteolysis Progressive clavicular acroosteolysis Abnormality of the cardiovascular system Splenomegaly Decreased body weight Hypertrophic cardiomyopathy Round face Generalized hirsutism Limitation of joint mobility Premature graying of hair Aplasia/Hypoplasia of the skin Myopathy Progeroid facial appearance

Rare Symptoms - Less than 30% cases

Abnormality of the cerebral vasculature Low-set ears Aortic valve stenosis Delayed skeletal maturation Heart murmur Hernia Behavioral abnormality Increased bone mineral density Coxa valga Premature ovarian insufficiency Left ventricular hypertrophy Cardiomegaly Fragile nails Lack of skin elasticity Carious teeth Hepatosplenomegaly Coarse facial features Abnormality of skin pigmentation Generalized osteoporosis Stroke Thick upper lip vermilion Opacification of the corneal stroma Gingival overgrowth Osteopenia Kyphosis Macrocephaly Narrow forehead Abnormality of the skin Sensorineural hearing impairment Macrotia Pectus carinatum Postnatal growth retardation Hip dysplasia Palpebral edema Hypoplastic nipples Neoplasm Down-sloping shoulders Increased intracranial pressure Aminoaciduria Hypoplasia of teeth Abnormal form of the vertebral bodies Bird-like facies Retinal degeneration Arthropathy Pain Everted lower lip vermilion Umbilical hernia Abnormality of the clavicle Edema High pitched voice Glaucoma Hyperkeratosis Narrow mouth Sparse hair Multiple joint contractures Premature coronary artery atherosclerosis Aplasia/Hypoplasia of the eyebrow Delayed cranial suture closure Dermal atrophy Long eyelashes High, narrow palate Elevated hepatic transaminase Inguinal hernia Epidermal acanthosis Muscular hypotonia Arteriosclerosis Wide cranial sutures Epicanthus Sinus tachycardia Advanced eruption of teeth Myalgia Abnormality of the nail Pancreatitis Increased intraabdominal fat High forehead Microcephaly Acroosteolysis of distal phalanges (feet) Polycystic ovaries Minimal subcutaneous fat Skeletal muscle hypertrophy Xanthomatosis Precocious atherosclerosis Decreased HDL cholesterol concentration Absence of subcutaneous fat Peripheral arterial stenosis Osteolytic defects of the distal phalanges of the hand Downslanted palpebral fissures Narrow chest Malar flattening Tachycardia Abnormality of the ribs Hirsutism Mitral regurgitation Sparse eyelashes Infertility Cerebral atrophy Abnormality of lysosomal metabolism Bilateral coxa valga Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Pneumonia Absence of pubertal development Craniosynostosis Enlarged vertebral pedicles Carotid artery stenosis Retinopathy Narrow nasal tip Recurrent respiratory infections Regional abnormality of skin Proximal tapering of metacarpals Bullet-shaped phalanges of the hand Abdominal pain Broad long bone diaphyses Craniofacial disproportion Pes cavus Old-aged sensorineural hearing impairment Reticulated skin pigmentation Camptodactyly of finger Hypoplastic facial bones Constipation Arteriosclerosis of small cerebral arteries Depressivity Broad ischia Headache Kyphoscoliosis Diarrhea Vomiting Skeletal dysplasia Hydrocephalus Visual loss Respiratory insufficiency Abnormality of joint mobility Short neck Delayed tarsal ossification Tapering pointed ends of distal finger phalanges Thick skull base Apnea Mental deterioration Delayed speech and language development Deformed humerus Pallor Flaring of rib cage Wide mouth Feeding difficulties Cognitive impairment Prominent scalp veins Anterior rib cupping Mitral valve calcification Abnormal mandible coronoid process morphology Intracranial hemorrhage Nasal speech Relative macrocephaly Hypercholesterolemia Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Aspiration Hypohidrosis Abnormality of the tympanic membrane Broad-based gait Osteoarthritis Stiff interphalangeal joints Cyanosis Abnormality of glycosaminoglycan metabolism Nail dysplasia Growth hormone deficiency Chest pain Hypodontia Abnormality of premolar morphology Hypermetropia Dilated cardiomyopathy Hip dislocation Microtia Carcinoma Abnormal mandibular ramus morphology Dementia Abnormality of circulating leptin level Metaphyseal widening Increased size of nasopharyngeal adenoids Parietal bossing Aplasia/Hypoplasia of the earlobes Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Decreased testosterone in males Thin nail Hip pain Aplastic clavicle Abnormal pyramidal sign Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Enlarged joints Small face Prolonged QT interval Ovoid vertebral bodies Hyperphosphatemia Transient ischemic attack Absent eyelashes Abnormal EKG Thrombocytosis Alopecia of scalp Renal cell carcinoma Keratoconjunctivitis sicca Abnormality of the wing of the ilium Thin ribs Scleroderma Exertional dyspnea Carcinoid tumor Dolichocephaly Nyctalopia Enlargement of the wrists Conical tooth Hypoplastic ilia Upper airway obstruction Communicating hydrocephalus Large earlobe Beaking of vertebral bodies Tracheal stenosis Abnormality of the respiratory system Dysostosis multiplex Diastasis recti Gingivitis Heparan sulfate excretion in urine Abnormality of the skull Abnormal hand morphology Obstructive sleep apnea Flared iliac wings Thoracolumbar kyphoscoliosis Hypoplasia of the odontoid process Cervical kyphosis Short mandibular rami Urinary glycosaminoglycan excretion Hernia of the abdominal wall Patchy hypo- and hyperpigmentation Protuberant abdomen Recurrent lower respiratory tract infections Calvarial hyperostosis Peripheral visual field loss Cervical myelopathy Abnormality of the middle ear ossicles Shallow orbits Abnormality of the elbow Cor pulmonale Foam cells Thoracic scoliosis Retinal fold J-shaped sella turcica Large sella turcica Flared nostrils Narrow pelvis bone Meckel diverticulum Anterior open bite Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Large face Mucopolysacchariduria Biconcave vertebral bodies Abnormality of the gingiva Chronic rhinitis Recurrent ear infections Pulmonary edema Sagittal craniosynostosis Hip subluxation Abnormal mitral valve morphology Seborrheic dermatitis Endocardial fibroelastosis Constrictive median neuropathy Abnormal aortic valve morphology Myelopathy Atlantoaxial dislocation Abnormality of peripheral nerve conduction Rhinorrhea Broad femoral neck Delayed ossification of carpal bones Diaphyseal thickening Abnormal diaphysis morphology Protruding tongue Rhinitis Mandibular condyle hypoplasia Calcification of falx cerebri Recurrent otitis media Hypoplasia of the femoral head Hypertrichosis Progressive neurologic deterioration Interphalangeal joint contracture of finger Intellectual disability, profound Lumbar hyperlordosis Microdontia Progressive visual loss Asthma Broad nasal tip Macroglossia Sleep disturbance Neurodegeneration Abnormality of the tonsils Encephalocele Abnormality of eye movement Corneal opacity Severe global developmental delay Prominent sternum Synophrys Cervical subluxation Hypoplastic cervical vertebrae Genu valgum Thick vermilion border Enlarged tonsils Dry skin Thick eyebrow Wide nose Inability to walk C1-C2 subluxation Split hand Chronic diarrhea Abnormal CNS myelination Recurrent upper respiratory tract infections Spinal canal stenosis Lumbar kyphosis Thickened calvaria Abnormal heart valve morphology Dermatan sulfate excretion in urine Restrictive ventilatory defect Flared metaphysis Metatarsus adductus Toe walking Stridor Language impairment Hemiplegia Back pain Prominent supraorbital ridges Hyperammonemia Thickened skin Abnormality of the pubic bone Abnormality of epiphysis morphology Exotropia Abnormal vertebral morphology Elbow flexion contracture Spastic paraparesis Abnormality of dental enamel Abnormality of mucopolysaccharide metabolism Sleep apnea Coxa vara Aortic regurgitation Cerebral palsy Widely spaced teeth Progressive hearing impairment Corneal dystrophy Sclerosis of hand bone Nephrotic syndrome Neoplasm of the oral cavity Cerebellar cortical atrophy Hypertonia Atrial septal defect Ventriculomegaly Ventricular septal defect Cryptorchidism Abnormality of the thoracic spine Lumbosacral meningocele Bilobate gallbladder Foam cells with lamellar inclusion bodies Severe generalized osteoporosis Schistocytosis Abnormality of cholesterol metabolism Abnormal platelet morphology Anisopoikilocytosis Encephalopathy Neural tube defect Increased mean platelet volume Butterfly vertebrae Ambiguous genitalia, male Acanthocytosis Intrahepatic cholestasis Myelomeningocele Meningocele Postaxial foot polydactyly Prominent metopic ridge Biparietal narrowing Pathologic fracture Bilateral talipes equinovarus Portal hypertension Recurrent infections Thin upper lip vermilion Arnold-Chiari malformation Cutis laxa Shuffling gait Excessive daytime somnolence Ventricular extrasystoles Short columella Pulmonary artery stenosis Poor eye contact Broad hallux Redundant skin Deep philtrum Coarse hair Delayed gross motor development Scrotal hypoplasia Shock Ventricular tachycardia Deeply set eye Torticollis Microretrognathia Low anterior hairline Stereotypy Fine hair Waddling gait Underdeveloped nasal alae Highly arched eyebrow Small hand Abnormality of the foot Lethargy Autistic behavior Muscular hypotonia of the trunk Neonatal hypotonia Elevated alkaline phosphatase Hyperbilirubinemia Torsade de pointes Dilatation Abnormality of the menstrual cycle Acute pancreatitis Hyperlipoproteinemia Maternal diabetes Abnormality of lipid metabolism Hyperuricemia Glomerulopathy Cellulitis Cranial nerve paralysis Spontaneous abortion Papule Pectus excavatum Obesity Proximal upper limb muscle hypertrophy Eclampsia Muscle hypertrophy of the lower extremities Decreased adiponectin level Accelerated atherosclerosis Decreased serum leptin Abnormal atrioventricular conduction Supraventricular arrhythmia Ventricular arrhythmia Abnormality of the forearm Spotty hyperpigmentation Delayed closure of the anterior fontanelle Bundle branch block Right bundle branch block Tricuspid regurgitation Pulmonary arterial hypertension Congenital generalized lipodystrophy Abnormality of skeletal muscle fiber size Horseshoe kidney Polydactyly Cholestasis Hypoplasia of penis Sloping forehead Postaxial hand polydactyly Cerebral calcification Specific learning disability Microcornea Downturned corners of mouth Postaxial polydactyly Bulbous nose Hepatic failure Talipes Toe syndactyly Abnormality of the liver Myoclonus Osteopoikilosis Thrombocytopenia Syndactyly Talipes equinovarus Intrauterine growth retardation Ptosis Seizures Increased intramuscular fat Labial pseudohypertrophy Myelin tomacula Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Sunken cheeks Abnormality of complement system Adipose tissue loss Supraventricular tachycardia Unilateral cryptorchidism Premature arteriosclerosis Aplasia/Hypoplasia of the clavicles Abnormality of the hair Skin ulcer Abnormality of retinal pigmentation Type II diabetes mellitus Mitral valve prolapse Short palm Congenital cataract Pes planus Stiff elbow Foamy urine Abnormality of the fingertips Foot pain Thin clavicles Limb-girdle muscle atrophy Finger clinodactyly Mottled pigmentation Hematemesis Breast aplasia Broad distal phalanx of finger Calcinosis Vertebral compression fractures Narrow nose Premature loss of teeth Spinal rigidity Hypermelanotic macule Glucose intolerance Focal segmental glomerulosclerosis Hyperostosis Absent eyebrow Narrow face Neoplasm of the skin Glomerulosclerosis Chondrocalcinosis Intervertebral disc degeneration Neoplasm of the thyroid gland Subcutaneous calcification Neoplasm of the small intestine Abnormality of the Achilles tendon Abnormal hair whorl Fasting hyperinsulinemia Aortic valve calcification Neoplasm of the breast Abnormal hair quantity Abnormality of the pulmonary artery White forelock Exercise-induced myalgia Abnormality of the testis Reduced bone mineral density Pili torti Osteosarcoma Renal neoplasm Meningioma Neoplasm of the lung Ovarian neoplasm Sparse body hair Telangiectasia of the skin Glycosuria Decreased fertility Calf muscle hypertrophy Rocker bottom foot Abnormality of the voice Laryngomalacia Congenital muscular dystrophy Wormian bones Acetabular dysplasia Cleft lip Hemangioma Abnormality of the outer ear Abnormal palate morphology Nephrolithiasis Abnormality of the metaphysis Choanal atresia Small nail Amenorrhea Ectodermal dysplasia Cleft upper lip Joint hyperflexibility Broad forehead Abnormality of the pinna EEG abnormality Abnormality of pelvic girdle bone morphology Mandibular prognathia Hyperhidrosis Optic atrophy Myopia Visual impairment Nystagmus Facial wrinkling Enlarged naris Abnormality of the forehead Abnormal head movements Cardiogenic shock Abnormality of the nares Capillary malformation Everted upper lip vermilion Hypopigmented skin patches Hyperextensible skin Increased body weight Hypospadias Hyperpigmentation of the skin Large fontanelles Sparse scalp hair Dental malocclusion Sepsis Short distal phalanx of finger Nail dystrophy Muscular dystrophy Scarring Paralysis Abnormality of the kidney Proximal muscle weakness Rigidity Retrognathia Muscle weakness Sparse eyebrow Early balding Hypoplastic areola Tetraamelia Asymmetry of the thorax Thick nasal alae Fingernail dysplasia Nasolacrimal duct obstruction Abnormality of the neck Oligospermia Decreased skull ossification Skin tags Underdeveloped supraorbital ridges Ectrodactyly Keratoconus Delayed ossification of the hand bones


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