Edema, and Delayed skeletal maturation

Diseases related with Edema and Delayed skeletal maturation

In the following list you will find some of the most common rare diseases related to Edema and Delayed skeletal maturation that can help you solving undiagnosed cases.

Top matches:

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY Is also known as cah due to 3-beta-hydroxysteroid dehydrogenase deficiency

Related symptoms:

  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Hypospadias
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY

Other less relevant matches:

Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.

Related symptoms:

  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about INHERITED ISOLATED ADRENAL INSUFFICIENCY DUE TO PARTIAL CYP11A1 DEFICIENCY

Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.

46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY Is also known as xy sex reversal-adrenal failure|p450scc deficiency

Related symptoms:

  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Talipes equinovarus
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

Low match ALG9-CDG

ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Top 5 symptoms//phenotypes associated to Edema and Delayed skeletal maturation

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Delayed skeletal maturation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Acidosis Short stature Decreased testicular size Decreased fertility Ambiguous genitalia, male Gynecomastia Large fontanelles Clitoral hypertrophy Hyperkalemia Abnormal sex determination Female external genitalia in individual with 46,XY karyotype Hypernatriuria Adrenocorticotropic hormone excess Dehydration Hypovolemia Increased circulating ACTH level Urogenital sinus anomaly Increased circulating renin level Elevated circulating luteinizing hormone level Delayed puberty Decreased circulating aldosterone level Abnormal vagina morphology Absence of secondary sex characteristics Elevated circulating follicle stimulating hormone level Hyponatremia Renal salt wasting Male pseudohermaphroditism Neonatal hypoglycemia Primary adrenal insufficiency Cryptorchidism Feeding difficulties Generalized hyperpigmentation Hypotension Decreased circulating cortisol level Reduced bone mineral density Muscular hypotonia Pain Flexion contracture Depressed nasal bridge Brachydactyly Hepatomegaly Frontal bossing Severe short stature Skeletal dysplasia Arthralgia Generalized hypotonia Global developmental delay Seizures

Rare Symptoms - Less than 30% cases

Long philtrum Splenomegaly Short nose Sex reversal Wide mouth Blue sclerae Broad thumb Intellectual disability Microcephaly Cerebellar atrophy Hepatosplenomegaly Low-set ears Abnormality of the liver Respiratory failure Decreased circulating androgen level Premature birth Aplasia of the uterus Abnormality of cholesterol metabolism Delayed cranial suture closure Flat occiput Hypermetropia Kyphoscoliosis Microphthalmia Generalized bronze hyperpigmentation Adrenal hypoplasia Respiratory insufficiency Abnormality of prenatal development or birth Abnormality of the Leydig cells Low maternal serum estriol Midshaft hypospadias Abnormal urine potassium concentration Cataract Anemia Macrocephaly Agenesis of corpus callosum Induced vaginal delivery Skin rash Pectus excavatum Acne Growth delay Joint swelling Joint stiffness Osteolytic defects of the phalanges of the hand Arthritis Accelerated skeletal maturation Growth abnormality Wormian bones Proportionate short stature Midface retrusion Hypospadias Osteopenia Flat acetabular roof Hypoplastic vertebral bodies Metaphyseal cupping Delayed epiphyseal ossification Bell-shaped thorax Renal phosphate wasting Protuberant abdomen Hypoplastic ischia Polycystic ovaries Severe platyspondyly Vertebral hypoplasia Anterior rib cupping Hypoplastic pubic bone Abnormally ossified vertebrae Squared iliac bones Metaphyseal irregularity Posterior rib cupping Hyperlordosis Cognitive impairment Hyperreflexia Atrial septal defect Kyphosis Encephalopathy Brachycephaly Hypophosphatemia Short long bone Prominent supraorbital ridges Anteverted nares Osteoarthritis Respiratory tract infection Polyhydramnios Recurrent respiratory infections Short thumb Short neck Back pain Narrow chest Mild short stature Broad hallux Adrenal hyperplasia Hyperaldosteronism Bilateral talipes equinovarus Adrenal insufficiency Platyspondyly Micromelia Relative macrocephaly Waddling gait Abnormal cardiac septum morphology Disproportionate short-limb short stature Recurrent pneumonia Wide anterior fontanel Rhizomelia Abnormality of epiphysis morphology Abnormality of the metaphysis Short palm Lumbar hyperlordosis Limb undergrowth Short metacarpal Tapered finger Short foot Small hand Gait disturbance Ascites Hip dislocation Clumsiness Abnormality of the nervous system Low-set, posteriorly rotated ears Leukemia Dolichocephaly Malabsorption Lymphadenopathy Lactic acidosis Retinal dystrophy Metabolic acidosis Triangular face Progressive cerebellar ataxia Nevus Aciduria Underdeveloped nasal alae Leukocytosis Hypoglycemia Hypoplastic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Normocytic anemia Petechiae Extramedullary hematopoiesis Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Nuclear cataract Severe failure to thrive Elevated hepatic transaminase Cerebral cortical atrophy Poor speech Epileptic encephalopathy Global brain atrophy Cutis marmorata Tricuspid regurgitation Lipodystrophy Hydrops fetalis Decreased fetal movement Wide intermamillary distance Aplasia cutis congenita Esotropia Delayed myelination Brain atrophy Asthma Hyperpigmentation of the skin Hepatic failure Pericardial effusion Inverted nipples Abdominal pain Myopathy Posteriorly rotated ears Elevated serum creatine phosphokinase Obesity Thrombocytopenia Cerebral atrophy Diarrhea Downslanted palpebral fissures Central hypotonia Optic atrophy Fever Nystagmus Ataxia Delayed CNS myelination Nonimmune hydrops fetalis Bilateral cryptorchidism Hernia Cyanosis Scarring Abnormality of the labia majora Ectopic adrenal gland Hearing impairment Scoliosis Palmoplantar hyperkeratosis Micrognathia Sensorineural hearing impairment Thickened skin Limitation of joint mobility Alopecia Hyperkeratosis Proptosis Retrognathia Sparse hair Prominent nasal bridge Abnormal oral glucose tolerance Erythema Thin vermilion border Delayed eruption of teeth Recurrent fractures Hypoplasia of the maxilla Abnormality of the skin Hypotelorism Fine hair Thin skin Cachexia Dermal atrophy Pterygium Coarse facial features Long nose Hyperpigmented genitalia Androgen insufficiency Slender long bone Perineal hypospadias Bifid scrotum Glucose intolerance Ambiguous genitalia Hirsutism Subperiosteal bone formation Periostosis Eczematoid dermatitis Hip pain Wide cranial sutures Long clavicles Seborrheic dermatitis Clubbing of fingers Flushing Heart block Growth hormone excess Enlarged ovaries Ambiguous genitalia, female Redundant skin Patent foramen ovale Clubbing Premature adrenarche Decreased fertility in males Adrenogenital syndrome Disproportionate tall stature Arthropathy Decreased fertility in females Abnormal glucose tolerance Congenital adrenal hyperplasia Thickened calvaria Enlarged polycystic ovaries Abnormality of the menstrual cycle Lipoatrophy Prematurely aged appearance Vertigo Thickened cortex of long bones Hypocalcemia High pitched voice High hypermetropia Basal ganglia calcification Papilledema Hypoparathyroidism Hyperphosphatemia Decreased skull ossification Tetany Delayed closure of the anterior fontanelle Bilateral microphthalmos Persistence of primary teeth Hypocalcemic seizures Hypocalcemic tetany Congenital hypoparathyroidism Small nail Postnatal macrocephaly Cortical thickening of long bone diaphyses Thin long bone diaphyses Stenosis of the medullary cavity of the long bones Calvarial osteosclerosis Retinal calcification Transient hypophosphatemia Abnormal circulating follicle-stimulating hormone level Abnormality of the medullary cavity of the long bones Talipes equinovarus Insulin resistance Limited elbow extension Lethargy Talipes Increased bone mineral density High myopia Striae distensae Quadriceps muscle atrophy Narrow nose Shallow orbits Increased thyroid-stimulating hormone level Narrow philtrum Thin calvarium Hyperhidrosis Abnormal heart morphology Patent ductus arteriosus High palate Ptosis Adrenal calcification Cleft palate Neoplasm Abnormality of skeletal physiology Limited elbow flexion Neutropenia Prominent forehead Infertility Carious teeth Congenital cataract Small for gestational age Disproportionate short stature Postnatal growth retardation Intrauterine growth retardation Decreased hip abduction Myopia Exostoses Abnormality of tibia morphology Abnormality of the knee Low back pain Osteochondritis Dissecans Normocytic hypoplastic anemia


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