Micrognathia, and Hemolytic anemia

Diseases related with Micrognathia and Hemolytic anemia

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

Top matches:

Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Other less relevant matches:

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

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

Top 5 symptoms//phenotypes associated to Micrognathia and Hemolytic anemia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Micrognathia and Hemolytic anemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect Patent ductus arteriosus Posteriorly rotated ears Epicanthus Microtia High palate Cryptorchidism Growth delay Abnormal facial shape Short neck Autoimmune hemolytic anemia Ptosis Immunodeficiency Hypertelorism Scoliosis Feeding difficulties Depressed nasal bridge Macrocytic anemia Upslanted palpebral fissure Midface retrusion Hydronephrosis Webbed neck Hernia Obesity Hypothyroidism Retrognathia Congenital diaphragmatic hernia Flexion contracture Malar flattening Ventricular septal defect Pneumonia

Rare Symptoms - Less than 30% cases

Anal atresia Strabismus Hypospadias Recurrent infections Otitis media Respiratory failure Macrotia Amenorrhea Prominent nose Intellectual disability, moderate Low-set ears Seborrheic dermatitis Sloping forehead Microdontia Narrow mouth Micropenis Wide nose Hypoplasia of the corpus callosum Jaundice Sparse and thin eyebrow Spasticity Generalized hypotonia Anorectal anomaly Primary amenorrhea Small nail Purpura Failure to thrive Anal stenosis Deep philtrum Abnormality of the middle ear Cafe-au-lait spot Choanal atresia Thrombocytopenia Attention deficit hyperactivity disorder Diarrhea Polymicrogyria Iris coloboma Blepharophimosis Respiratory distress Autoimmunity Vitiligo Broad neck Mandibulofacial dysostosis Respiratory insufficiency Spherocytosis Abnormality of the kidney Autoimmune thrombocytopenia Bifid uvula Coarctation of aorta Cupped ear Renal dysplasia Polyhydramnios Splenomegaly Fever Abnormality of the pinna Astigmatism Atresia of the external auditory canal Intrauterine growth retardation Abnormal heart morphology Telecanthus Preauricular pit Neoplasm Conductive hearing impairment Downslanted palpebral fissures Acne Severe short stature Myelomeningocele Psoriasiform dermatitis Unilateral renal agenesis Dilatation Anterior segment developmental abnormality Clinodactyly Pes planus Renal insufficiency Depressivity Inflammation of the large intestine Truncus arteriosus Visual loss Anxiety Rheumatoid arthritis Postnatal growth retardation Coloboma Paralysis Tetany Schizophrenia Protruding ear Respiratory tract infection Feeding difficulties in infancy Cholelithiasis Arnold-Chiari malformation Joint laxity Juvenile rheumatoid arthritis Nasal speech Sclerocornea Hypoglycemia Kyphosis Abnormality of the dentition Intellectual disability, mild Duodenal stenosis Conotruncal defect Vascular tortuosity Bipolar affective disorder Abnormality of the thymus Retinal vascular tortuosity Graves disease Perisylvian polymicrogyria Arteria lusoria Impaired T cell function Right aortic arch Alcoholism Femoral hernia Perimembranous ventricular septal defect Hypoparathyroidism Interrupted aortic arch Aplasia of the thymus Right aortic arch with mirror image branching Hypoplasia of the thymus Posterior embryotoxon Meningocele Abnormality of the skeletal system Myopia Wide nasal bridge Brachydactyly Muscular hypotonia Type I truncus arteriosus Esophoria Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Malabsorption Sacral meningocele Aplasia of the uterus Accommodative esotropia Abnormal cardiac septum morphology Hydroureter Joint hypermobility Sclerosing cholangitis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Single ventricle Sparse eyelashes Crossed fused renal ectopia Common atrium Vertebral clefting Epibulbar dermoid Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Congenital mitral stenosis Unilateral cryptorchidism Recurrent ear infections Glaucoma Cortical gyral simplification Adducted thumb Drooling Knee flexion contracture Decreased body weight Open mouth Spastic tetraplegia Tetraplegia Abnormality of skin pigmentation Agenesis of corpus callosum Sensorineural hearing impairment Congestive heart failure Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Ectopic kidney Granulocytopenia Severe sensorineural hearing impairment Submucous cleft hard palate Mixed hearing impairment Sparse eyebrow Ureteropelvic junction obstruction Anterior plagiocephaly Hirsutism Abnormal vertebral morphology Brittle hair Failure to thrive in infancy Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Increased body weight Long eyelashes Bilateral cryptorchidism Heterotopia Recurrent otitis media Blue sclerae Growth hormone deficiency Decreased antibody level in blood Dental malocclusion Intestinal malrotation Hypodontia Single transverse palmar crease Highly arched eyebrow Precocious puberty Bundle branch block Trichorrhexis nodosa Patellar dislocation Broad philtrum Small face Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Short columella Scaphocephaly Right bundle branch block Overweight Hashimoto thyroiditis IgA deficiency Thyroiditis Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Bicuspid aortic valve Abnormality of the pons Hypocalcemia Lymphopenia Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Cachexia Recurrent pneumonia Low anterior hairline Abnormality of the hair Abnormality of the musculature Sinusitis Telangiectasia Bronchiectasis Chronic diarrhea Recurrent urinary tract infections Abnormality of the face Cutaneous photosensitivity Convex nasal ridge Lymphoma Freckling Neuroblastoma Cleft upper lip Abnormal hair quantity Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Rhabdomyosarcoma Acute lymphoblastic leukemia Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Acute leukemia Hearing abnormality Neurodegeneration Leukemia Hepatomegaly Varicose veins Prune belly Facial edema Intestinal lymphangiectasia Stomatocytosis Chylothorax Periorbital edema Generalized edema Nonimmune hydrops fetalis Hydrocele testis Genital edema Deep venous thrombosis Cellulitis Pericardial effusion Hydrops fetalis Lymphedema Ascites Gastroesophageal reflux Pectus excavatum Edema Pulmonary lymphangiectasia Nystagmus Small for gestational age Abnormality of the hypothalamus-pituitary axis Prominent nasal bridge Mental deterioration Abnormality of the nervous system Hyperactivity Recurrent respiratory infections Skeletal muscle atrophy Muscle weakness Ataxia Supernumerary ribs External ear malformation Talipes equinovarus Anosmia Sacral dimple Azoospermia Hypogonadotrophic hypogonadism Hypoplasia of penis Mitral valve prolapse Microcornea Retinal dystrophy Hypogonadism Progressive vitiligo Hyperreflexia Spina bifida Breech presentation Cognitive impairment Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Hemoglobinuria Developmental stagnation Hydrocephalus High anterior hairline Cardiorespiratory arrest Pierre-Robin sequence Epileptic spasms Central hypotonia Absent septum pellucidum Infantile spasms Prominent occiput Large for gestational age Delayed speech and language development Hypertonia Scaling skin High, narrow palate Exotropia Amblyopia Broad thumb Short palpebral fissure Low posterior hairline Tetralogy of Fallot Specific learning disability Renal agenesis Chorea Bulbous nose Behavioral abnormality Generalized tonic-clonic seizures Short philtrum Craniosynostosis Cleft lip Arthritis Umbilical hernia Inguinal hernia Abnormality of cardiovascular system morphology Microphthalmia Overfolded helix Redundant skin Macrocephaly Coarse facial features Abnormality of eye movement Stroke Wide mouth Developmental regression Apnea Abnormality of the eye Muscular hypotonia of the trunk Neonatal hypotonia Cerebral cortical atrophy Cirrhosis Myoclonus Cerebellar hypoplasia Encephalopathy Absent speech Cerebral atrophy Long philtrum Short nose Cerebellar atrophy Anteverted nares Ichthyosis Hepatic failure Elevated alkaline phosphatase Generalized-onset seizure Widely spaced teeth Multicystic kidney dysplasia Cerebral visual impairment Gingival overgrowth Tall stature Postnatal microcephaly Large fontanelles Inflammatory abnormality of the skin Hypsarrhythmia Limb undergrowth Short distal phalanx of finger Overgrowth Neuronal loss in central nervous system Epileptic encephalopathy Vesicoureteral reflux Delayed myelination Gliosis Sepsis Generalized myoclonic seizures Downturned corners of mouth Muscle fibrillation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Inguinal hernia, related diseases and genetic alterations Congestive heart failure and Schizophrenia, related diseases and genetic alterations Lymphoma and Spinal muscular atrophy, related diseases and genetic alterations Micrognathia and Hypotrichosis, related diseases and genetic alterations