Low-set ears, and Gastrointestinal hemorrhage

Diseases related with Low-set ears and Gastrointestinal hemorrhage

In the following list you will find some of the most common rare diseases related to Low-set ears and Gastrointestinal hemorrhage that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

Other less relevant matches:

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25 Is also known as coxpd25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25

Top 5 symptoms//phenotypes associated to Low-set ears and Gastrointestinal hemorrhage

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Gastrointestinal hemorrhage. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Dilatation Micrognathia Growth delay Failure to thrive Depressed nasal bridge Epicanthus Generalized hypotonia Ptosis Seizures Hypertension Strabismus Anteverted nares Inguinal hernia Wide nasal bridge Downslanted palpebral fissures Prominent forehead Pectus carinatum Hepatomegaly Ventricular septal defect Respiratory insufficiency Joint hyperflexibility Splenomegaly Visual impairment Feeding difficulties in infancy Depressed nasal ridge Cleft palate Macrocephaly Polyhydramnios Hydrocephalus Joint hypermobility Intestinal malrotation Laryngomalacia Abnormality of the liver Gastroesophageal reflux Sepsis Low-set, posteriorly rotated ears Hearing impairment Renal insufficiency Abnormal facial shape Atrial septal defect Abnormality of cardiovascular system morphology Apnea Constipation Long philtrum Diarrhea Short neck Joint laxity Portal hypertension Talipes equinovarus Cryptorchidism Myopia

Rare Symptoms - Less than 30% cases

Severe short stature Mitral valve prolapse Nasal speech Edema Hypocalcemia Generalized joint laxity Aortic aneurysm Hyperextensible skin Overgrowth Myopathy Tetralogy of Fallot Hernia Pectus excavatum Osteoporosis Abnormality of the pharynx Glaucoma Blue sclerae Spina bifida Thick vermilion border Apraxia Kyphoscoliosis Wide nose Osteopenia Attention deficit hyperactivity disorder Abnormality of dental enamel Soft skin Thrombocytopenia Aganglionic megacolon Postural instability Long face Sparse hair Prominent nasal bridge Wide mouth Cardiomyopathy Carcinoma Intellectual disability, moderate Anxiety Keratoconus Abnormality of the skeletal system Cognitive impairment Hyperlordosis Neoplasm Abnormality of the nervous system Feeding difficulties Heart murmur Arthrogryposis multiplex congenita Abnormality of the hip bone Short nose Cerebral atrophy Frontal bossing Immunodeficiency Growth hormone deficiency Gait disturbance Motor delay Abnormal pulmonary valve morphology Delayed skeletal maturation Nystagmus Arachnodactyly Specific learning disability Increased body weight Anal atresia Optic nerve coloboma Hepatic fibrosis Chronic kidney disease Polycystic kidney dysplasia Atelectasis Esophageal varix Congenital hepatic fibrosis Cutis laxa Choanal atresia Single transverse palmar crease Abnormality of metabolism/homeostasis Oligohydramnios Intractable diarrhea Hypersplenism Villous atrophy Hematemesis Hyponatremia Abnormal intestine morphology Intellectual disability, mild Metabolic acidosis Acidosis Vomiting Abnormality of the dentition Cholestasis Multiple renal cysts Abnormality of the kidney Autism Microcephaly Respiratory failure Intellectual disability, severe Behavioral abnormality Respiratory distress Macrotia Congestive heart failure Delayed speech and language development Stage 5 chronic kidney disease High palate Large face Renal cyst Hypoglycemia Dysphagia Dysarthria Ventriculomegaly Hypogonadism Occipital myelomeningocele Hypertrophic cardiomyopathy Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Irritability Postnatal growth retardation Hypermetropia Abnormal aortic arch morphology Hypertensive crisis Flaring of lower rib cage Coarse facial features Absent speech Impaired lymphocyte transformation with phytohemagglutinin Hyperhidrosis Long fibula Abnormality of the distal phalanx of finger Non-Hodgkin lymphoma Posteriorly rotated ears Cerebral cortical atrophy Hyperkeratosis Metaphyseal dysostosis Susceptibility to chickenpox Pes cavus Arrhythmia Abnormal T cell morphology Sparse facial hair Proptosis Severe T-cell immunodeficiency Biconvex vertebral bodies Abnormality of humoral immunity Abnormal heart morphology Narrow vertebral interpedicular distance Absent pubertal growth spurt Retinal arteriolar tortuosity Asthma Pulmonary lymphoma Acne Abnormality of the skull Patellar dislocation Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Arthritis Foot polydactyly Hyperthyroidism Bowel incontinence Dysphasia Chronic otitis media Truncus arteriosus Telecanthus Autoimmunity Overfolded helix Abnormality of the thorax Short philtrum Hand polydactyly Cholelithiasis Carious teeth Schizophrenia Hypopigmented skin patches Purpura Bulbous nose Renal hypoplasia Meningocele Myalgia Anorectal anomaly Hypospadias Cataract Intrauterine growth retardation Optic atrophy Vesicoureteral reflux Arrhinencephaly Malar flattening Platybasia Small earlobe Microphthalmia Abnormal aortic valve morphology Obesity Depressivity Abnormal thrombocyte morphology Abnormal eyelid morphology Seborrheic dermatitis Patent ductus arteriosus Upslanted palpebral fissure Narrow mouth Hypoplasia of the thymus Tetany Corneal neovascularization Hypothyroidism Umbilical hernia Abnormality of the uterus Chronic obstructive pulmonary disease Conductive hearing impairment Varicose veins Impaired T cell function Relative macrocephaly Pulmonic stenosis Concave nail Triangular mouth Melena Deep plantar creases Thin nail Papilloma Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Rhabdomyosarcoma Hyperextensibility of the finger joints Pneumothorax Hypoplasia of teeth Bladder neoplasm Lack of skin elasticity Large earlobe Thick upper lip vermilion Achilles tendon contracture Large forehead Verrucae Central apnea Abnormality of the testis Fasting hypoglycemia Redundant neck skin Labial hypoplasia Deep palmar crease Asymmetric septal hypertrophy Abnormal mitral valve morphology Broad philtrum Capillary malformation Duodenal ulcer Progeroid facial appearance Loose anagen hair Preeclampsia Cerebellar atrophy Sensorineural hearing impairment Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Cardiomyocyte hypertrophy Ulnar deviation of the wrist Ganglioneuroblastoma Body odor Postprandial hyperglycemia Shyness Hypopnea Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Frontal hirsutism Bladder carcinoma Vestibular Schwannoma Deep-set nails Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Woolly hair Barrel-shaped chest Delayed puberty Thick lower lip vermilion Short chin Narrow palate Pointed chin Hoarse voice Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Lymphedema Wide anterior fontanel Hyperpigmentation of the skin Long eyelashes Decreased body weight Hypoplasia of dental enamel Atrial fibrillation Epidermal acanthosis Acanthosis nigricans Tetraplegia Astigmatism Tachycardia Hematuria High, narrow palate Sleep disturbance Ascites Macroglossia Eczema Full cheeks Nevus Premature birth Webbed neck Abnormality of the skin Hip dysplasia Abnormality of the fingernails Abnormal dermatoglyphics Megalencephaly Curly hair Fragile nails Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Neonatal hypoglycemia Arnold-Chiari type I malformation Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Reduced subcutaneous adipose tissue Infantile muscular hypotonia Failure to thrive in infancy Hemangioma Arnold-Chiari malformation Abnormally ossified vertebrae Poor suck Pyloric stenosis Redundant skin Pleural effusion Neurodevelopmental delay Hyperglycemia Bilateral cryptorchidism Hypoplastic toenails Tricuspid regurgitation Rocker bottom foot Large for gestational age Hypoplastic anemia Small hand Abnormal bone ossification Cerebellar hypoplasia Highly arched eyebrow Nephropathy Retinal dystrophy Iris coloboma Cirrhosis Oral cleft Abnormality of eye movement Coloboma Abnormality of the eye Elevated hepatic transaminase Polydactyly Agenesis of corpus callosum Tremor Postaxial hand polydactyly Hyperreflexia Spasticity Ataxia Bilateral trilobed lungs Subependymal cysts Aplasia/Hypoplasia of the thymus Displacement of the external urethral meatus Persistent left superior vena cava Common atrium Anterior creases of earlobe Velopharyngeal insufficiency Urethral stenosis Total anomalous pulmonary venous return Round face Cerebellar vermis hypoplasia Heterotaxy Abnormal pattern of respiration Talipes Dolichocephaly Retinopathy Neonatal hypotonia Pes planus Kyphosis Blindness Flexion contracture Muscle weakness Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Aplasia/Hypoplasia of the cerebellar vermis Abnormality of the hypothalamus-pituitary axis Encephalocele Cholestatic liver disease Neoplasm of the liver Abnormality of abdomen morphology Biparietal narrowing Occipital encephalocele Nephronophthisis Molar tooth sign on MRI Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Aplasia/Hypoplasia of the corpus callosum Oculomotor apraxia Multicystic kidney dysplasia Interrupted aortic arch Anomalous pulmonary venous return Bruising susceptibility Potter facies Toe syndactyly Syndactyly Enterocolitis Protein-losing enteropathy Malnutrition Hypoalbuminemia Hypercholesterolemia Hyperlipidemia Pain Absence of renal corticomedullary differentiation Azotemia Hypoplasia of the ear cartilage Periportal fibrosis Portal fibrosis Bifid uvula Biliary tract abnormality Tubulointerstitial fibrosis Hepatic cysts Pancreatic cysts Cholangitis Chronic lung disease Enlarged kidney Renal hypoplasia/aplasia Abnormal lung morphology Dehydration Pulmonary hypoplasia Scarring Hepatosplenomegaly Abdominal distention Keratitis Abdominal situs inversus Poor speech Dyslexia Double outlet right ventricle Abnormality of immune system physiology Transposition of the great arteries Hypoplastic left heart Obsessive-compulsive behavior Stridor Abnormality of the genitourinary system Sleep apnea Narrow face Situs inversus totalis Stereotypy Smooth philtrum Neurological speech impairment Preauricular pit Abnormality of the pinna Hydronephrosis High forehead Mandibular prognathia Midface retrusion Brachydactyly Secretory diarrhea Protracted diarrhea Ureteral duplication Rectovaginal fistula Corneal erosion Abnormality of digit Mild short stature Unsteady gait Retinal detachment Neonatal short-limb short stature Reduced tendon reflexes Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Squamous cell carcinoma Cone-shaped epiphysis Metaphyseal widening Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Abnormal palate morphology High hypermetropia Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Short ribs Lymphopenia Sparse and thin eyebrow Gingival overgrowth Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Bronchiectasis Bowing of the long bones Abnormal form of the vertebral bodies Tibial bowing Metaphyseal dysplasia Fine hair Abnormality of the pancreas Congenital hypoplastic anemia Spinal dysraphism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Aplastic anemia Macrocytic anemia B-cell lymphoma Tracheal stenosis Fair hair Heart block Upper limb undergrowth Overweight Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Hodgkin lymphoma Abnormality of the metaphysis Lumbar hyperlordosis Polyneuropathy Spina bifida occulta Lens luxation Subcutaneous hemorrhage Bladder diverticulum Aortic dissection Atypical scarring of skin Aortic root aneurysm Slender finger Atrophic scars Disproportionate tall stature Intracranial hemorrhage Corneal dystrophy Aortic regurgitation Torticollis Joint dislocation Keloids Hyperbilirubinemia Recurrent pneumonia Joint contracture of the hand Insulin resistance Tall stature Dental crowding Thin skin High myopia Decreased fetal movement Esotropia Abnormal bleeding Generalized muscle weakness Microcornea Thoracic kyphoscoliosis Dural ectasia Abnormality of the ribs Skeletal dysplasia Convex nasal ridge Decreased antibody level in blood Lymphoma Hypopigmentation of the skin Neutropenia Short palm Micromelia Narrow chest Malabsorption Hypotrichosis Leukemia Abnormal cardiac septum morphology EEG abnormality Brachycephaly Arterial dissection Pneumonia Alopecia Recurrent infections Anemia Progressive congenital scoliosis Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Intraventricular hemorrhage


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