Edema, and Hypoplasia of penis

Diseases related with Edema and Hypoplasia of penis

In the following list you will find some of the most common rare diseases related to Edema and Hypoplasia of penis 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

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

Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Edema and Hypoplasia of penis

Symptoms // Phenotype % cases
Micropenis Very Common - Between 80% and 100% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Hypospadias Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hydrops fetalis Pulmonary hypoplasia Cleft palate Low-set ears Diffuse mesangial sclerosis Hernia Focal segmental glomerulosclerosis Seizures Glomerulosclerosis Generalized hypotonia Nephrotic syndrome Primary amenorrhea Stage 5 chronic kidney disease Proteinuria Renal insufficiency

Rare Symptoms - Less than 30% cases

Rod-cone dystrophy Hypertension Hypogonadism Polyhydramnios Choanal atresia Postaxial polydactyly Neoplasm Nystagmus Obesity Hypocalcemia Syndactyly Abnormality of the skeletal system Intellectual disability Fever Respiratory insufficiency Hypoglycemia Hypothyroidism Abdominal distention Amenorrhea Congenital diaphragmatic hernia Visual impairment Global developmental delay Sensorineural hearing impairment Male pseudohermaphroditism Coloboma Agenesis of corpus callosum Cardiomyopathy Hepatomegaly Hypertelorism Cleft lip Steroid-resistant nephrotic syndrome Gonadoblastoma Short stature Gonadal dysgenesis Nephroblastoma Nephropathy Ambiguous genitalia Abnormality of the genital system Growth delay Hyposmia Lacrimation abnormality Hypoplasia of teeth Lacrimal duct stenosis Diastema Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Molar tooth sign on MRI Thoracic hypoplasia Absent paranasal sinuses Aplasia of the nose Frontal encephalocele Hypoplastic labia majora Agenesis of permanent teeth Anencephaly Broad nasal tip Microphthalmia Midface retrusion Inguinal hernia Cataract Corneal opacity Microcephaly Synophrys Delayed puberty Iris coloboma Hypoplasia of the maxilla Short upper lip Aplastic clavicle High palate Dental malocclusion Encephalocele Hypogonadotrophic hypogonadism Scrotal hypoplasia Anosmia Retinal coloboma Reduced number of teeth Thoracic dysplasia Limb-girdle muscular dystrophy Upper limb undergrowth Anophthalmia Preauricular pit Muscular dystrophy Epidermal acanthosis Ataxia Amniotic constriction ring Dehydration Heterotopia Exercise intolerance Cerebral palsy Optic nerve hypoplasia Precocious puberty Diabetes insipidus Short finger Absent septum pellucidum Hypopituitarism Severe vision loss Panhypopituitarism Talipes Adrenocorticotropic hormone deficiency Colpocephaly Cavum septum pellucidum Hemianopia Anterior pituitary hypoplasia Optic disc hypoplasia Ectopic posterior pituitary Septo-optic dysplasia Pituitary dwarfism Bitemporal hemianopia Decreased circulating luteinizing hormone level Growth hormone deficiency Abnormality of eye movement Strabismus Lymphopenia Ptosis Peripheral neuropathy Immunodeficiency Abnormality of the nervous system Mental deterioration Developmental regression Retinopathy Ichthyosis Focal-onset seizure Short ribs Hypertriglyceridemia Recurrent bacterial infections Severe global developmental delay Hypoalbuminemia Focal impaired awareness seizure Adrenal insufficiency Primary adrenal insufficiency Primary hypothyroidism Congenital nephrotic syndrome Absent testis Talipes equinovarus Hypoplasia of the corpus callosum Severe short stature Autism Abnormality of the eye Preaxial polydactyly Esophageal atresia Cerebellar vermis hypoplasia Severe muscular hypotonia Motor delay Skeletal muscle atrophy Dysphagia Respiratory failure Facial palsy Arthrogryposis multiplex congenita Ophthalmoplegia Premature birth Decreased fetal movement Large fontanelles Adducted thumb Cystoid macular edema Abnormality of the thorax 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 Flexion contracture Macular edema Recurrent infections Congenital hypoplastic anemia Abnormality of the genitourinary system Anemia Splenomegaly Hypertrophic cardiomyopathy Wide anterior fontanel Hyperbilirubinemia Reticulocytosis Anemia of inadequate production Fetal distress Normochromic anemia Erythroid hyperplasia Attenuation of retinal blood vessels Failure to thrive Spasticity Feeding difficulties Intrauterine growth retardation Blindness Hypertonia Elevated hepatic transaminase Muscular hypotonia of the trunk Retinal degeneration Pigmentary retinopathy Status epilepticus Edema of the dorsum of hands Weight loss Polymicrogyria Prominent scrotal raphe Hydroureter Edema of the lower limbs Nonimmune hydrops fetalis Rectovaginal fistula Vaginal atresia Chordee Penoscrotal hypospadias Hydrometrocolpos Transverse vaginal septum Mesoaxial hand polydactyly Vesicovaginal fistula Polycystic kidney dysplasia Pelvic mass Hydrocolpos Depressed nasal bridge Short neck Hydrocephalus Atrial septal defect Hyporeflexia Abnormality of the pinna Narrow chest Micromelia Oral cleft Tracheoesophageal fistula Congenital hip dislocation Abnormality of the kidney Streak ovary Pallor Lethargy Glomerulonephritis Glomerulopathy Aniridia Abnormal renal physiology Ambiguous genitalia, male Ambiguous genitalia, female Uterus didelphys Low-grade fever Anuria Abnormal vertebral morphology True hermaphroditism Ovarian gonadoblastoma Gonadal tissue inappropriate for external genitalia or chromosomal sex Respiratory distress Abnormality of cardiovascular system morphology Hydronephrosis Anal atresia Tetralogy of Fallot Postaxial hand polydactyly Aganglionic megacolon Lymphedema Decreased circulating follicle stimulating hormone level


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