Failure to thrive, and Bruising susceptibility

Diseases related with Failure to thrive and Bruising susceptibility

In the following list you will find some of the most common rare diseases related to Failure to thrive and Bruising susceptibility that can help you solving undiagnosed cases.

Top matches:

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Other less relevant matches:

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary|primary bilateral macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

High match CUSHING DISEASE

Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

High match WILSON DISEASE

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Top 5 symptoms//phenotypes associated to Failure to thrive and Bruising susceptibility

Symptoms // Phenotype % cases
Fatigue Common - Between 50% and 80% cases
Osteoporosis Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Thin skin Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Bruising susceptibility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Osteopenia Growth delay Depressivity Nephrolithiasis Short stature Neoplasm Lipodystrophy Proptosis Downslanted palpebral fissures Increased body weight Anxiety Diabetes mellitus Obesity Cataract Round face Macrocephaly Skeletal muscle atrophy Generalized hirsutism Intellectual disability Hypokalemia Acne Truncal obesity Infertility Generalized hypotonia Psychosis Global developmental delay Flexion contracture High palate Skeletal dysplasia Pes planus Recurrent fractures Anemia Pathologic fracture Kyphosis Vertebral compression fractures Aseptic necrosis Blue sclerae Muscular hypotonia Hypertelorism Pituitary adenoma

Rare Symptoms - Less than 30% cases

Hirsutism Bone pain Increased susceptibility to fractures Oral-pharyngeal dysphagia Alopecia Muscle weakness Striae distensae Increased circulating cortisol level Neurological speech impairment Macronodular adrenal hyperplasia Proteinuria Bipolar affective disorder Venous thrombosis Recurrent skin infections Premature ovarian insufficiency Menorrhagia Telangiectasia of the skin Generalized hyperpigmentation Adrenal hyperplasia Lethargy Onychomycosis Metrorrhagia Mental deterioration Respiratory distress Dysphagia Hepatomegaly Spasticity Sleep disturbance Abdominal pain Hepatosplenomegaly Dorsocervical fat pad Poor wound healing Abdominal obesity Dementia Abnormality of the menstrual cycle Mood changes Moon facies Bowing of the long bones Visual loss Thrombocytopenia Splenomegaly Visual impairment Cardiomyopathy Myopathy Immunodeficiency Headache Hydrops fetalis Seizures Arachnodactyly Epicanthus Retrognathia Flat forehead Broad forehead Microtia Pectus carinatum Cryptorchidism Cutis laxa Abnormality of the nervous system Depressed nasal bridge Wide nasal bridge Joint hypermobility Talipes equinovarus Short neck Abnormal facial shape Intrauterine growth retardation Hydrocephalus Hernia Pectus excavatum Craniosynostosis Prominent forehead Hyperextensible skin Progeroid facial appearance Abnormality of the metaphysis Severe short stature Delayed eruption of teeth Bifid uvula Midface retrusion Low-set ears Frontal bossing Joint hyperflexibility Micrognathia Scoliosis Prominent scalp veins Joint laxity Supernumerary nipple Accelerated skeletal maturation Sparse eyelashes Varicose veins Aplasia/Hypoplasia of the eyebrow Radioulnar synostosis Microcytic anemia Elbow dislocation Sparse eyebrow Mild global developmental delay Curly hair Periodontitis Atypical scarring of skin Bilateral cryptorchidism Bowing of the legs Gingivitis Genu recurvatum Short clavicles Proportionate short stature Atrophic scars Generalized osteoporosis Underdeveloped supraorbital ridges Radial deviation of finger High forehead Testicular torsion Phalangeal dislocation Abnormality of the kidney Low-set, posteriorly rotated ears Intellectual disability, moderate Facial wrinkling Micropenis Soft, doughy skin Patent ductus arteriosus Hypospadias Malar flattening Long philtrum Anteverted nares Ptosis Abnormality of primary teeth Slender toe Large joint dislocations Polycystic kidney dysplasia Dermal translucency Spina bifida Small face Short toe Long toe Dental crowding Palmoplantar cutis gyrata Abnormality of the genital system Webbed neck Advanced ossification of carpal bones Macroglossia Ulnar bowing Talipes Forearm undergrowth Talipes equinovalgus Absent earlobe Congenital cataract Microcephaly Weight loss Protruding tongue Abnormality of the hand Arthropathy Osteomalacia Glycosuria Global brain atrophy Personality changes Abnormality of mitochondrial metabolism Hypercalciuria Back pain Schizophrenia Joint swelling Drooling Leukoencephalopathy Leukopenia Nephrocalcinosis Aminoaciduria Spontaneous abortion Muscle stiffness Decreased liver function Abnormality of blood and blood-forming tissues Hepatocellular carcinoma Clumsiness Retinoblastoma Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Proximal muscle weakness in lower limbs Hypoparathyroidism Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Esophageal varix Chondrocalcinosis Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Involuntary movements Cholestasis Myelomeningocele Peripheral neuropathy Jaundice Arthralgia Coxa valga Cerebral atrophy Dystonia Vomiting Tremor Dysarthria Neurocytoma Rigidity Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Hypochromic anemia Asymmetry of the thorax Hypochromic microcytic anemia Aplasia/Hypoplasia of the earlobes Brain neoplasm Osteosarcoma Difficulty walking Elevated hepatic transaminase Osteoarthritis Cirrhosis Progressive neurologic deterioration Hepatitis Ascites Coma Polyneuropathy Hepatic steatosis Hemolytic anemia Hepatic failure Nausea Arthritis Peripheral axonal neuropathy Paresthesia Confusion Poor speech Nausea and vomiting Abnormality of the cerebral white matter Pruritus Abnormality of the liver Aggressive behavior Joint dislocation Pancytopenia Elbow flexion contracture Abnormality of the ribs Hyperthyroidism High pitched voice Abnormality of the voice Abnormality of dental enamel Wormian bones Abnormal form of the vertebral bodies Microdontia Turricephaly Brachydactyly Narrow palm Dural ectasia Pes valgus Hyperextensibility of the finger joints Entropion Narrow nose Central hypotonia Shallow orbits Scaphocephaly Hyperparathyroidism Facial erythema Biconcave vertebral bodies Ecchymosis Alkalosis Meningioma Oligomenorrhea Glucose intolerance Coronal craniosynostosis Emotional lability Amenorrhea Orbital craniosynostosis Crumpled long bones Multiple suture craniosynostosis Severe hydrops fetalis Communicating hydrocephalus Severe intrauterine growth retardation Aortic root aneurysm Peripheral edema Short phalanx of finger Broad femoral neck Prominent superficial veins Irregular vertebral endplates Short femoral neck Metaphyseal widening Joint contracture of the hand Waddling gait Flattened epiphysis Short metacarpal Dental malocclusion Hypodontia Tapered finger Platyspondyly Camptodactyly of finger Postnatal growth retardation Flat capital femoral epiphysis Thenar muscle atrophy Reduced subcutaneous adipose tissue Premature birth Aortic aneurysm Ectopia lentis Relative macrocephaly Tall stature High myopia Oligohydramnios Mitral valve prolapse High, narrow palate Moderately short stature Arthrogryposis multiplex congenita Prominent nasal bridge Gastroesophageal reflux Dilatation Myopia Absent palmar crease Cigarette-paper scars Increased circulating ACTH level Menometrorrhagia Aortic valve stenosis Aortic valve calcification Abnormality of the dentition Motor delay Cleft palate Hearing impairment Erlenmeyer flask deformity of the femurs Mitral valve calcification Vertical supranuclear gaze palsy Abnormality of cardiovascular system morphology Hypersplenism Abnormal myocardium morphology Multiple myeloma Chronic fatigue Aspiration pneumonia Pulmonary infiltrates Macular atrophy Intellectual disability, mild Narrow mouth Interstitial pulmonary abnormality Triangular face Sparse and thin eyebrow Sparse scalp hair Fine hair Cutaneous photosensitivity Congenital diaphragmatic hernia Nevus Single transverse palmar crease Kyphoscoliosis Flat face Abnormality of skin pigmentation Pulmonic stenosis Narrow chest Hypermetropia Scarring Telecanthus Pericardial effusion Increased antibody level in blood Adrenocorticotropic hormone excess Decreased circulating ACTH level Gait disturbance Feeding difficulties Pain Strabismus Ataxia Primary hypercortisolism Neoplasm of the endocrine system Encephalopathy Subarachnoid hemorrhage Orthostatic hypotension Agitation Memory impairment Hypotension Psychotic mentation Abnormal fear/anxiety-related behavior Abnormality of the skeletal system Delayed skeletal maturation Stridor Pulmonary arterial hypertension Hyperkinesis Shock Osteolysis Increased bone mineral density Aspiration Hyperpigmentation of the skin Abnormal lung morphology Epistaxis Pneumonia Generalized myoclonic seizures Hematuria Delayed puberty Ophthalmoplegia Abnormality of the eye Dyspnea Recurrent respiratory infections Atypical or prolonged hepatitis


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