Hepatomegaly, and Micropenis

Diseases related with Hepatomegaly and Micropenis

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


Top matches:

High match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV


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

High match RETINITIS PIGMENTOSA 59; RP59


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

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Other less relevant matches:

High match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

High match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

High match COCKAYNE SYNDROME TYPE 2


Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

High match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

High match COCKAYNE SYNDROME TYPE 1


Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

High match YUNIS-VARON SYNDROME


Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

High match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Micropenis

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Splenomegaly

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation Anemia Sensorineural hearing impairment Growth delay Edema Spasticity Hypertelorism Ventricular septal defect Anteverted nares Abnormal heart morphology Intellectual disability, severe Renal insufficiency Severe short stature Hypertension Flexion contracture Atrial septal defect Cataract Cardiomyopathy Nystagmus High palate Neuronal loss in central nervous system Long philtrum Microphthalmia Cerebellar hypoplasia Strabismus Overgrowth Polyhydramnios Hypotrichosis Hyperreflexia Ventriculomegaly Micrognathia Abnormal cardiac septum morphology Muscle weakness Hypospadias Hypertrophic cardiomyopathy Sparse hair Abnormality of the pinna Cerebral atrophy Opacification of the corneal stroma Upslanted palpebral fissure Elevated hepatic transaminase Muscular hypotonia of the trunk Polyneuropathy Pigmentary retinopathy Hydrocephalus Postnatal growth retardation Abnormal facial shape

Rare Symptoms - Less than 30% cases


Pneumonia Small for gestational age Hypothyroidism Ichthyosis Macrocephaly Short nose Hypoplasia of the corpus callosum Delayed skeletal maturation Malabsorption Diabetes mellitus Alopecia Hepatic failure Downturned corners of mouth Single transverse palmar crease Sparse scalp hair Narrow mouth Posteriorly rotated ears Microdontia Patent ductus arteriosus Growth hormone deficiency Apnea Exocrine pancreatic insufficiency Widely spaced teeth Limitation of joint mobility Basal ganglia calcification Thickened calvaria Reduced subcutaneous adipose tissue Anhidrosis Decreased nerve conduction velocity Cutaneous photosensitivity Dental malocclusion Ataxia Severe failure to thrive Optic atrophy Tremor Kyphosis Arrhythmia Abnormality of skin pigmentation Mandibular prognathia Dry skin Proteinuria Abnormality of visual evoked potentials Atypical scarring of skin Depressed nasal bridge Increased cellular sensitivity to UV light Clitoral hypertrophy Patchy demyelination of subcortical white matter Ivory epiphyses of the phalanges of the hand Square pelvis bone Peripheral dysmyelination Slender nose Severe photosensitivity Normal pressure hydrocephalus Progeroid facial appearance Loss of facial adipose tissue Decreased lacrimation Delayed eruption of primary teeth Abnormal auditory evoked potentials Hypoplasia of teeth Dry hair Hypoplastic pelvis Hypoplastic iliac wing Muscular hypotonia Postnatal microcephaly Congenital microcephaly Abnormality of the kidney Gingival overgrowth Abnormality of the liver Hepatosplenomegaly Cerebral cortical atrophy Fever Low-set ears Cardiomegaly Enlarged kidney Large for gestational age Premature birth Clinodactyly Congenital cataract Cleft palate Neoplasm Status epilepticus Hypogonadism Hypertonia Retinopathy Feeding difficulties Proptosis Hyperbilirubinemia Hydrops fetalis Large fontanelles Carious teeth Hypermetropia Gliosis Cerebral visual impairment Cerebral calcification Small nail Pachygyria Dolichocephaly Severe global developmental delay Hip dislocation Absent eyebrow Microtia Thin upper lip vermilion Bilateral microphthalmos Short philtrum Protruding ear Irritability Thin ribs Rocker bottom foot Small earlobe Aplastic clavicle Inverted nipples Macrotia Syndactyly Short finger Chorioretinitis Anonychia Thymic hormone decreased Abnormality of the skeletal system Respiratory distress Agenesis of corpus callosum Severe hearing impairment Absent thumb Flared metaphysis Metatarsus adductus Short middle phalanx of finger Abnormality of digit High forehead Toe syndactyly Arrhinencephaly Tapered finger Thin vermilion border Pyloric stenosis Abnormality of the neck Decreased skull ossification Aplasia/Hypoplasia of the thumb Hypoplastic scapulae Short chin Hypoplastic labia majora Sparse eyelashes Redundant neck skin Short clavicles Abnormality of finger Sclerocornea Tented upper lip vermilion Glossoptosis Abnormality of the urinary system Short ribs Sparse eyebrow High, narrow palate Abnormality of blood and blood-forming tissues Abnormality of pelvic girdle bone morphology Hypopigmentation of the skin Abnormality of dental morphology Hypodontia Dandy-Walker malformation Tetralogy of Fallot Pulmonary arterial hypertension Short toe Cerebellar vermis hypoplasia Premature loss of primary teeth Short phalanx of finger Short thumb Aplasia/Hypoplasia of the eyebrow Aplasia/Hypoplasia of the nipples Sparse and thin eyebrow Absent nipple Wide nasal bridge Wide cranial sutures Plagiocephaly Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Hyperglycemia Stridor Psoriasiform dermatitis Lipodystrophy Sleep apnea Azoospermia Osteolysis Polycythemia Type I diabetes mellitus Elbow flexion contracture Hypergonadotropic hypogonadism Aspiration Gynecomastia Hyperpigmentation of the skin Telangiectasia Bronchiectasis Primary amenorrhea Hypertrichosis Hypertriglyceridemia Blue sclerae Scleroderma Episodic fever Epidermal acanthosis Hyperplasia of the maxilla Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Broad finger Severe sensorineural hearing impairment Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Epistaxis Bilateral sensorineural hearing impairment Increased nuchal translucency Generalized hypotrichosis Abnormality of the occipital bone Abnormal parietal bone morphology Tapered toe Abnormal pelvis bone morphology Short proximal phalanx of hallux Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Slender long bones with narrow diaphyses Aplasia/Hypoplasia of the hallux Bilateral external ear deformity Absent sternal ossification Broad secondary alveolar ridge Abnormality of the scapula Aplasia/Hypoplasia of the scapulae Gingival recession Aplasia/Hypoplasia of the clavicles Hypoplastic facial bones Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Hypoplasia of the frontal lobes Multiple skeletal anomalies Aplasia/Hypoplasia of the middle phalanges of the hand Generalized neonatal hypotonia Short upper lip Abnormality of dental structure Narrow nasal base Mitral valve prolapse Low-set, posteriorly rotated ears Amenorrhea Decreased testicular size Wide intermamillary distance Full cheeks Recurrent fractures Flat face Cleft upper lip Lymphadenopathy Abnormality of the foot Delayed puberty Pectus carinatum Camptodactyly Conductive hearing impairment Aplasia/Hypoplasia of the proximal phalanx of the hallux Pes planus Dyspnea Hyperkeratosis Hernia Intellectual disability, mild Frontal bossing CNS demyelination Brachydactyly Epicanthus Ptosis Aplasia of the distal phalanx of the hallux Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanges of the hand Retinal pigment epithelial mottling Absent speech Menstrual irregularities Clinodactyly of the 5th finger Generalized muscle weakness Abdominal distention Hypoplasia of the maxilla Delayed eruption of teeth Anal atresia Dilated cardiomyopathy Cleft lip Joint laxity Hydronephrosis Abnormality of cardiovascular system morphology Underdeveloped nasal alae Dilatation Abnormality of the dentition Fatigue Cognitive impairment Increased CSF protein Petechiae Lissencephaly Spastic tetraparesis Purpura Intestinal malrotation Convex nasal ridge Decreased liver function Dextrocardia Anal stenosis Facial cleft Hypoplastic nipples Hypopituitarism Anteriorly placed anus Glycosuria Agenesis of permanent teeth Steatorrhea Hydroureter Congenital sensorineural hearing impairment Hypoplasia of penis Portal hypertension Abnormality of the genitourinary system Oligodontia Severe muscular hypotonia Pointed chin Hypocalcemia Abnormality of the nail Situs inversus totalis Cafe-au-lait spot Cholestasis Microretrognathia Tetraparesis Calvarial skull defect Attenuation of retinal blood vessels Macroglossia Facial asymmetry Autistic behavior Hypoglycemia Umbilical hernia Inguinal hernia Delayed speech and language development Cystoid macular edema Macular edema Retinal degeneration Abnormality of the face Rod-cone dystrophy Blindness Erythroid hyperplasia Congenital hypoplastic anemia Normochromic anemia Fetal distress Anemia of inadequate production Reticulocytosis Wide anterior fontanel Omphalocele Abnormality of the outer ear Intellectual disability, profound Visual impairment Sloping forehead Tetraplegia Polymicrogyria Abnormality of movement Generalized tonic-clonic seizures Corneal opacity Skin rash Jaundice Thrombocytopenia Auricular pit Nephroblastoma Embryonal neoplasm Anterior creases of earlobe Abdominal wall defect Rhabdomyosarcoma Visceromegaly Hemihypertrophy Diastasis recti Nevus flammeus Neonatal hypoglycemia Abnormality of the ureter Fair hair Abnormal hair pattern Severe postnatal growth retardation Multicystic kidney dysplasia Central hypotonia Absent septum pellucidum Infantile spasms Prominent occiput Overfolded helix Scaling skin Redundant skin Elevated alkaline phosphatase Deep philtrum Tall stature Pierre-Robin sequence Inflammatory abnormality of the skin Hypsarrhythmia Generalized-onset seizure Limb undergrowth Epileptic encephalopathy Webbed neck Vesicoureteral reflux Delayed myelination Sepsis Epileptic spasms Cardiorespiratory arrest Hemolytic anemia Dysarthria Large hands Neoplasm of the skin Atherosclerosis Knee flexion contracture Leukodystrophy Anorexia Peripheral demyelination Dementia Gait disturbance Abnormality of the pons High anterior hairline Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Hemoglobinuria Seborrheic dermatitis Breech presentation Developmental stagnation Generalized myoclonic seizures Wide nose Hypoproteinemia Increased VLDL cholesterol concentration Osteoporosis Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Absent lacrimal punctum Colonic diverticula Prominent nasal bridge Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Rectovaginal fistula Deeply set eye Microcornea Short distal phalanx of finger Respiratory failure Cirrhosis Abnormality of eye movement Stroke Wide mouth Developmental regression Abnormality of the eye Neonatal hypotonia Coarse facial features Retrognathia Myoclonus Abnormality of the hair Encephalopathy Obesity Malar flattening Cerebellar atrophy Short neck Cerebellar calcifications Subcortical white matter calcifications Abnormal peripheral myelination Hypoplasia of the iris Dermal atrophy Seborrheic keratosis



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