Edema, and Micropenis

Diseases related with Edema and Micropenis

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

Top matches:

Medium match DENYS-DRASH SYNDROME

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

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

Other less relevant matches:

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Related symptoms:

  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CONGENITAL NEMALINE MYOPATHY

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

McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

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 with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Top 5 symptoms//phenotypes associated to Edema and Micropenis

Symptoms // Phenotype % cases
Hypospadias Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Hydrops fetalis Diffuse mesangial sclerosis Cleft palate Primary amenorrhea Focal segmental glomerulosclerosis Hernia Glomerulosclerosis Seizures Nephrotic syndrome Stage 5 chronic kidney disease Proteinuria Renal insufficiency Pulmonary hypoplasia

Rare Symptoms - Less than 30% cases

Hypertension Rod-cone dystrophy Flexion contracture Scrotal hypoplasia Polyhydramnios Choanal atresia Arthrogryposis multiplex congenita Neoplasm Postaxial polydactyly Adducted thumb Polydactyly Respiratory distress Abnormality of the skeletal system Intellectual disability Respiratory insufficiency Global developmental delay Microcephaly Strabismus Abdominal distention Amenorrhea Hypogonadism Congenital diaphragmatic hernia Sensorineural hearing impairment Nephroblastoma Cleft lip Hydrocephalus Steroid-resistant nephrotic syndrome Hepatomegaly Gonadoblastoma Male pseudohermaphroditism Gonadal dysgenesis Depressed nasal bridge Cataract Abnormality of the genital system Nephropathy Ambiguous genitalia Coloboma High palate Ataxia Aplasia of the nose Ptosis Absent paranasal sinuses Frontal encephalocele Thoracic hypoplasia Abnormality of the sense of smell Lacrimal duct stenosis Diastema Hypoplasia of teeth Molar tooth sign on MRI Anencephaly Lacrimation abnormality Hyposmia Aplasia/Hypoplasia involving the nose Preauricular pit Hypoplastic labia majora Encephalocele Inguinal hernia Microphthalmia Corneal opacity Muscular dystrophy Visual impairment Delayed puberty Iris coloboma Hypoplasia of the maxilla Broad nasal tip Dental malocclusion Short upper lip Agenesis of permanent teeth Hypogonadotrophic hypogonadism Anosmia Reduced number of teeth Aplastic clavicle Retinal coloboma Thoracic dysplasia Limb-girdle muscular dystrophy Anophthalmia Upper limb undergrowth Midface retrusion Synophrys Lymphopenia Peripheral neuropathy Heterotopia Cerebellar hypoplasia Posteriorly rotated ears Upslanted palpebral fissure Retrognathia Camptodactyly Hypermetropia Abnormality of eye movement Abnormality of the foot Webbed neck Dandy-Walker malformation Hypotelorism Apraxia Oculomotor apraxia Absent speech Lissencephaly Plagiocephaly Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Pleural effusion Hypoplasia of the brainstem Overlapping toe Pericardial effusion Cystic hygroma Overlapping fingers Cerebellar dysplasia Hand clenching Clinodactyly Short nose Immunodeficiency Recurrent bacterial infections Hypothyroidism Hypoglycemia Abnormality of the nervous system Mental deterioration Developmental regression Retinopathy Ichthyosis Focal-onset seizure Epidermal acanthosis Hypertriglyceridemia Short ribs Hypocalcemia Hypoalbuminemia Behavioral abnormality Focal impaired awareness seizure Adrenal insufficiency Primary adrenal insufficiency Primary hypothyroidism Congenital nephrotic syndrome Absent testis Micrognathia Abnormal facial shape Macrocephaly Talipes equinovarus Ventriculomegaly Anteverted nares Preaxial polydactyly Nonimmune hydrops fetalis Cerebellar vermis hypoplasia Severe muscular hypotonia Cystoid macular edema Motor delay Skeletal muscle atrophy Dysphagia Respiratory failure Facial palsy Ophthalmoplegia Premature birth Decreased fetal movement Large fontanelles Abnormality of the thorax Attenuation of retinal blood vessels Hypokinesia Thin ribs Facial diplegia Nemaline bodies Breech presentation Type 1 muscle fiber predominance Increased connective tissue Axial muscle weakness Multiple prenatal fractures Abnormality of the diaphragm Edema of the dorsum of hands Macular edema Status epilepticus Fever Normochromic anemia Abnormality of the genitourinary system Short stature Anemia Cardiomyopathy Splenomegaly Hypertrophic cardiomyopathy Wide anterior fontanel Hyperbilirubinemia Reticulocytosis Anemia of inadequate production Fetal distress Congenital hypoplastic anemia Pigmentary retinopathy Erythroid hyperplasia Growth delay Failure to thrive Spasticity Feeding difficulties Intrauterine growth retardation Blindness Hypertonia Elevated hepatic transaminase Muscular hypotonia of the trunk Retinal degeneration Nystagmus Recurrent infections Polymicrogyria Mesoaxial hand polydactyly Tracheoesophageal fistula Hydroureter Esophageal atresia Edema of the lower limbs Rectovaginal fistula Vaginal atresia Chordee Penoscrotal hypospadias Hydrometrocolpos Transverse vaginal septum Prominent scrotal raphe Congenital hip dislocation Vesicovaginal fistula Pelvic mass Hydrocolpos Short neck Atrial septal defect Hyporeflexia Agenesis of corpus callosum Abnormality of the pinna Narrow chest Micromelia Oral cleft Polycystic kidney dysplasia Abnormal vertebral morphology Weight loss Streak ovary Abnormality of the kidney Pallor Lethargy Glomerulonephritis Glomerulopathy Aniridia Abnormal renal physiology Ambiguous genitalia, male Ambiguous genitalia, female Uterus didelphys Low-grade fever Anuria Lymphedema True hermaphroditism Ovarian gonadoblastoma Gonadal tissue inappropriate for external genitalia or chromosomal sex Syndactyly Abnormality of cardiovascular system morphology Obesity Hydronephrosis Anal atresia Tetralogy of Fallot Postaxial hand polydactyly Aganglionic megacolon Kinked brainstem


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