Edema, and Ambiguous genitalia

Diseases related with Edema and Ambiguous genitalia

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

Top matches:

Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.

DENYS-DRASH SYNDROME Is also known as drash syndrome|wilms tumor-disorder of sex development syndrome|wilms tumor-dsd syndrome

Related symptoms:

  • Neoplasm
  • Hypertension
  • Edema
  • Renal insufficiency
  • Micropenis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DENYS-DRASH SYNDROME

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

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:

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

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

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE Is also known as short rib-polydactyly syndrome type 3

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.

PHOCOMELIA, SCHINZEL TYPE Is also known as al-awadi/raas-rothschild syndrome|aarrs|lphas|congenital absence of ulna and fibula|aplasia/hypoplasia of limbs and pelvis|al awadi-raas-rothschild syndrome|severe limb deficit|limb/pelvis-hypoplasia/aplasia syndrome|schinzel phocomelia syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PHOCOMELIA, SCHINZEL TYPE

Top 5 symptoms//phenotypes associated to Edema and Ambiguous genitalia

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Male pseudohermaphroditism Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Ambiguous genitalia, male Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Ambiguous genitalia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypospadias Renal cyst Epicanthus Hernia Cleft upper lip Micropenis Agenesis of corpus callosum Clitoral hypertrophy Decreased fertility Generalized hyperpigmentation Hyperkalemia Talipes Gynecomastia Hyponatremia Reduced bone mineral density Cleft lip Pectus carinatum Dehydration Decreased testicular size Hypotension Anal atresia Acidosis Primary adrenal insufficiency Absence of secondary sex characteristics Neonatal hypoglycemia Frontal bossing Talipes equinovarus Abnormal sex determination Female external genitalia in individual with 46,XY karyotype Hypernatriuria Low-set ears Adrenocorticotropic hormone excess Hypovolemia Wide nasal bridge Increased circulating ACTH level Renal salt wasting Ventricular septal defect Urogenital sinus anomaly Increased circulating renin level Elevated circulating luteinizing hormone level Decreased circulating aldosterone level Abnormal vagina morphology Elevated circulating follicle stimulating hormone level Decreased circulating cortisol level Osteoporosis Delayed puberty Delayed skeletal maturation Polydactyly Short foot Abnormality of the genital system Vomiting Short ribs Hydrops fetalis Pulmonary hypoplasia Congenital diaphragmatic hernia Narrow chest Aplasia of the uterus Intestinal malrotation Macrocephaly Oral cleft Feeding difficulties

Rare Symptoms - Less than 30% cases

Hydrocephalus Micromelia Short palm High palate Abnormality of cholesterol metabolism Hypertelorism Short thorax Dandy-Walker malformation Omphalocele Hypoplasia of penis Micrognathia Induced vaginal delivery Abnormal urine potassium concentration Midshaft hypospadias Low maternal serum estriol Abnormality of the Leydig cells Renal hypoplasia Abnormality of prenatal development or birth Generalized bronze hyperpigmentation Decreased circulating androgen level Bifid tongue Hamartoma of tongue Abnormal facial shape Postaxial hand polydactyly Patent foramen ovale Posteriorly rotated ears Abnormal heart morphology Patent ductus arteriosus Skeletal dysplasia Brachydactyly Hypertension Hypoplastic nipples Single umbilical artery Telecanthus Preaxial hand polydactyly Median cleft lip Microglossia Thoracic dysplasia Abnormality of cardiovascular system morphology Intrauterine growth retardation Median cleft lip and palate Syndactyly Horizontal ribs Short neck Neoplasm Disproportionate short-limb short stature Nephroblastoma Uterus didelphys Ambiguous genitalia, female Abdominal distention Lethargy Intellectual disability Diffuse mesangial sclerosis Gonadoblastoma Gonadal dysgenesis Focal segmental glomerulosclerosis Sex reversal Renal insufficiency Premature birth Proteinuria Stage 5 chronic kidney disease Nephropathy Nephrotic syndrome Adrenal hypoplasia Glomerulosclerosis Failure to thrive Rectal fistula Short toe Aplasia/Hypoplasia of metatarsal bones Limb undergrowth Aplasia/Hypoplasia of the sacrum Bilateral single transverse palmar creases Wide intermamillary distance Holoprosencephaly Acrania Facial cleft Short long bone Aplasia/Hypoplasia of the phalanges of the toes Ascites Carpal bone aplasia Anophthalmia Metaphyseal irregularity Bowing of the legs Occipital meningocele Milia Short finger Preaxial polydactyly Pilonidal sinus Single transverse palmar crease Aplasia/Hypoplasia of the tarsal bones Ectopic anus Congenital hepatic fibrosis Lethal skeletal dysplasia Lower limb phocomelia Bifid epiglottis Absent or minimally ossified vertebral bodies Abnormal pelvis bone ossification Urethrovaginal fistula Hepatomegaly Humeroulnar synostosis Respiratory distress Aplasia/Hypoplasia involving the pelvis Splenomegaly Aplasia/Hypoplasia involving the carpal bones Inguinal hernia Broad palm Aplastic pubic bones Polyhydramnios Aplasia/Hypoplasia of the pubic bone High forehead Abnormality of the pinna Esophageal atresia Flat face Anteriorly displaced genitalia Femoral bowing Natal tooth Encephalocele Humeroradial synostosis Phocomelia High, narrow palate Fibular aplasia Nail dysplasia Hand oligodactyly Small nail Abnormality of tibia morphology Broad ribs Hypoplastic pelvis Calvarial skull defect Split hand Barrel-shaped chest Bowing of the long bones Foot oligodactyly Elbow flexion contracture Hemivertebrae Narrow palate Scrotal hypoplasia Hypoplasia of the radius Unilateral renal agenesis Tracheoesophageal fistula Radial bowing Anonychia Broad neck Meningocele Oligodactyly Ectrodactyly Disproportionate short stature Long face Prominent sternum Aplasia/Hypoplasia of the phalanges of the hand Intrahepatic bile duct cysts Protuberant abdomen Broad foot Hypoplastic sacrum Hypoplastic scapulae Preaxial foot polydactyly Atelectasis Cystic renal dysplasia Pancreatic cysts Accessory spleen Lobulated tongue Periportal fibrosis Fetal ascites Pancreatic dysplasia Bowing of the arm Absent internal genitalia Hip dislocation Flexion contracture Congenital pseudoarthrosis of the clavicle Abnormality of the skeletal system Decreased calvarial ossification Aplasia/hypoplasia of the femur Short nose Broad clavicles Aplasia/Hypoplasia involving the metacarpal bones Elbow ankylosis Aplasia of the ulna Macrotia Protruding ear Microtia Long ear Anencephaly Posterior pharyngeal cleft Abnormality of the metaphysis Respiratory failure Abnormal glucose tolerance Decreased fertility in females Adrenogenital syndrome Decreased fertility in males Premature adrenarche Enlarged ovaries Androgen insufficiency Abnormal oral glucose tolerance Hyperpigmented genitalia Abnormality of the labia majora Ectopic adrenal gland Adrenal calcification Vertigo Enlarged polycystic ovaries Cyanosis Hyperpigmentation of the skin Bilateral cryptorchidism Adrenal insufficiency Bilateral talipes equinovarus Hyperaldosteronism Adrenal hyperplasia Global developmental delay Sensorineural hearing impairment Downslanted palpebral fissures Dysphagia Anteverted nares Pectus excavatum Congenital adrenal hyperplasia Abnormality of the menstrual cycle Prominent forehead Aniridia Abnormality of the genitourinary system Steroid-resistant nephrotic syndrome Hearing impairment Nystagmus Fever Recurrent infections Weight loss Abnormality of the kidney Pallor Amenorrhea Primary amenorrhea Glomerulonephritis Glomerulopathy Abnormal renal physiology Perineal hypospadias Low-grade fever Streak ovary Anuria True hermaphroditism Ovarian gonadoblastoma Gonadal tissue inappropriate for external genitalia or chromosomal sex Hirsutism Insulin resistance Accelerated skeletal maturation Polycystic ovaries Acne Bifid scrotum Glucose intolerance Pneumonia Gastroesophageal reflux Wide nose Abnormality of the larynx Platyspondyly Hypermetropia Astigmatism Retinal dystrophy Cerebellar vermis hypoplasia Pachygyria Hepatic fibrosis Polycystic kidney dysplasia Tricuspid regurgitation Mesomelia Short tibia Dilation of lateral ventricles Spondylometaphyseal dysplasia Brachycephaly Lateral clavicle hook Hypoplasia of the epiglottis Pancreatic fibrosis Shortening of the tibia Polysyndactyly of hallux Postaxial polysyndactyly of foot Disproportionate shortening of the tibia Cataract Depressed nasal bridge Ventriculomegaly Long philtrum Cerebellar hypoplasia Hydronephrosis Craniosynostosis Severe short stature Thin upper lip vermilion Widow's peak Smooth philtrum Hypodontia Recurrent urinary tract infections Large fontanelles Aspiration Abnormality of the voice Increased number of teeth Prominent metopic ridge Double outlet right ventricle Bilateral cleft lip Aspiration pneumonia Bilateral cleft lip and palate Hydrocele testis Pulmonary artery atresia Atrial septal defect Volvulus Abnormality of the pharynx Chylothorax Right aortic arch Abnormality of the nasopharynx Intestinal lymphangiectasia Bladder exstrophy Recurrent aspiration pneumonia Exstrophy Osteoma Short stature Delayed speech and language development Motor delay Colonic stenosis


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 Coloboma, related diseases and genetic alterations Dysarthria and Sparse hair, related diseases and genetic alterations Wide nasal bridge and Nephrotic syndrome, related diseases and genetic alterations