Abnormal facial shape, and Acute myeloid leukemia

Diseases related with Abnormal facial shape and Acute myeloid leukemia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Acute myeloid leukemia that can help you solving undiagnosed cases.


Top matches:

Medium match JUVENILE MYELOMONOCYTIC LEUKEMIA


Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia|jmml|leukemia, juvenile myelomonocytic

Related symptoms:

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

Medium match X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE


X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30|mental retardation, x-linked, syndromic 30|x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Medium match 3-METHYLGLUTACONIC ACIDURIA TYPE 7


3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

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Other less relevant matches:

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Medium match SECKEL SYNDROME 1; SCKL1


Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match LIG4 SYNDROME


LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Low match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Acute myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Myelodysplasia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Acute myeloid leukemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Myeloid leukemia

Uncommon Symptoms - Between 30% and 50% cases


Cataract Anemia Global developmental delay Seizures Upslanted palpebral fissure Micrognathia Cryptorchidism Postnatal growth retardation Generalized hypotonia Clinodactyly of the 5th finger Intrauterine growth retardation Chromosome breakage Lymphoma Hydrocephalus Cleft palate Strabismus Neoplasm Short stature Nystagmus Epicanthus Acute monocytic leukemia Malar flattening Pancytopenia Acute leukemia Visual impairment Hypothyroidism Recurrent infections Ventriculomegaly Immunodeficiency Severe short stature Depressed nasal bridge Telangiectasia Narrow face Ataxia Abnormality of chromosome stability Small for gestational age Hypospadias Midface retrusion Abnormality of the skeletal system Pes planus

Rare Symptoms - Less than 30% cases


Skin rash Failure to thrive Patent ductus arteriosus Sarcoma Oligohydramnios Abnormality of skin pigmentation Carcinoma Retrognathia Proptosis Weight loss Glaucoma Visual loss Headache Blindness Wide nasal bridge Facial asymmetry Brachycephaly Combined immunodeficiency Acute lymphoblastic leukemia Thrombocytopenia Short nose Hepatomegaly Dolichocephaly Squamous cell carcinoma Hypopigmented skin patches Hearing impairment Scoliosis Cafe-au-lait spot Low-set ears Cutaneous photosensitivity Type II diabetes mellitus Prominent nose Finger syndactyly Telangiectasia of the skin Erythema High palate Diabetes mellitus Pachygyria Severe intrauterine growth retardation Sloping forehead Hypertelorism Clinodactyly Delayed skeletal maturation Posteriorly rotated ears Azoospermia Hip dislocation Anteverted nares Cerebral atrophy Almond-shaped palpebral fissure Spotty hypopigmentation Synophrys Cardiomyopathy Neutropenia Hyperactivity Short neck Cerebellar atrophy Micropenis Hypopigmentation of the skin Neurofibromas Thin vermilion border Abnormality of the upper limb Abnormality of the testis Abnormality of the thumb B-cell lymphoma Bicornuate uterus Aplastic anemia Abnormality of the ulna Abnormality of the uterus Abnormality of femur morphology Abnormal eyelid morphology Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Abnormal renal morphology Abnormal localization of kidney Arteriovenous malformation Abnormality of nervous system morphology Reticulocytopenia Decreased fertility in males Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Clubbing of toes Abnormal aortic morphology Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism External ear malformation Hearing abnormality Dyslexia Irregular hyperpigmentation Bruising susceptibility Short thumb Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Facial hypotonia Tetralogy of Fallot Renal agenesis Vertigo Abnormal vertebral morphology Astigmatism Anal atresia Abnormality of the foot Toe syndactyly Abnormal cardiac septum morphology Abnormality of the liver Irritability Abnormality of the kidney Abnormality of the eye Hypertrophic cardiomyopathy Insulin resistance Spina bifida Aplasia/Hypoplasia of the radius Tracheoesophageal fistula Aplasia/Hypoplasia of fingers Absent radius Abnormality of blood and blood-forming tissues Multiple cafe-au-lait spots Absent thumb Hydroureter Ectopic kidney Hypoplasia of the ulna Glucose intolerance Triphalangeal thumb Hypergonadotropic hypogonadism Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Renal hypoplasia/aplasia Cranial nerve paralysis Leukopenia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Aplasia/Hypoplasia of the uvula Narrow mouth Pyridoxine-responsive sideroblastic anemia Exudative retinal detachment High forehead Agenesis of corpus callosum Cerebellar hypoplasia Long philtrum Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Cerebellar malformation Muscular dystrophy Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Band keratopathy Lens luxation Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Feeding difficulties in infancy Severe global developmental delay Calvarial skull defect Nephroblastoma Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Triangular mouth Rhabdomyosarcoma Short sternum Mild microcephaly Multiple renal cysts Bifid scrotum Limb-girdle muscular dystrophy Generalized tonic-clonic seizures Hyperpigmentation of the skin Primary amenorrhea Intellectual disability, profound Ambiguous genitalia Amenorrhea Dandy-Walker malformation Generalized myoclonic seizures Renal cyst Wide nose Large forehead Vitreoretinopathy Abnormality of the preputium Splenomegaly Mental deterioration Alopecia Myopia Motor delay Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Severe combined immunodeficiency Biparietal narrowing Leukocytosis Congenital cataract Psoriasiform dermatitis Low anterior hairline Hypoplasia of penis Lymphadenopathy Malabsorption Telecanthus Abnormality of the nervous system Hypogonadism Delayed speech and language development Nyctalopia Joint hyperflexibility Meningocele Macular degeneration Aplasia cutis congenita Occipital encephalocele Absent septum pellucidum Chorioretinal atrophy Cortical dysplasia Dextrocardia Ectopia lentis Pyloric stenosis Corneal dystrophy Horizontal nystagmus Retinal degeneration Abnormality of the hair Encephalocele Thin skin High myopia Progressive visual loss Vesicoureteral reflux Retinal detachment Bulbous nose Polymicrogyria Umbilical hernia Congestive heart failure Abnormal heart morphology Encephalopathy Flexion contracture Feeding difficulties Dysphagia Syndactyly Intellectual disability, mild Abnormality of the dentition Diarrhea Dystonia Myoclonus Recurrent respiratory infections Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Pneumonia Spasticity Liposarcoma Otitis media Prominent supraorbital ridges Broad hallux Bronchiectasis Abnormality of the face Hypertrichosis Broad neck Echolalia Specific learning disability Abnormality of the skin Hyperhidrosis Broad face Decreased antibody level in blood Ichthyosis Infertility Abnormal hair whorl Protruding ear Regional abnormality of skin Polydactyly Hypointensity of cerebral white matter on MRI Sebaceous gland carcinoma Histiocytoma Generalized hirsutism Aciduria Developmental regression Abnormal pyramidal sign Attention deficit hyperactivity disorder Abnormality of movement Gliosis Brain atrophy Vomiting Increased serum lactate Neuronal loss in central nervous system Postural instability Pain Abnormality of extrapyramidal motor function Progressive neurologic deterioration Choreoathetosis Opisthotonus Progressive encephalopathy Congenital neutropenia 3-Methylglutaconic aciduria Dysgraphia Neonatal hypotonia Rigidity Vitritis Vitreous hemorrhage Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Soft tissue sarcoma Leiomyosarcoma Anisocoria Ocular pain Retinoblastoma Anorexia Inflammatory abnormality of the eye Buphthalmos Astrocytoma Anemia of inadequate production Osteosarcoma Uveitis Cellulitis Respiratory failure Increased intracranial pressure Sinusitis Increased body weight Myeloproliferative disorder Patent foramen ovale 11 pairs of ribs Abnormal cortical gyration Abnormally large globe Cone-shaped epiphyses of the phalanges of the hand Macrocephaly Proportionate short stature Dislocated radial head Clitoral hypertrophy Sandal gap Lumbar scoliosis Narrow palate Elbow flexion contracture Dental crowding Hypoplasia of dental enamel Cerebellar vermis hypoplasia Absent speech Convex nasal ridge Dental malocclusion Triangular face Selective tooth agenesis Small anterior fontanelle Single transverse palmar crease Fatigue Refractory anemia Abnormality of cardiovascular system morphology Microphthalmia Renal insufficiency Upper motor neuron dysfunction Atrial septal defect Respiratory distress Monocytosis Frontal bossing Fever Ivory epiphyses Hyperreflexia Juvenile myelomonocytic leukemia Acute myelomonocytic leukemia Ptosis Chronic myelomonocytic leukemia Hypoplasia of proximal fibula Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Tapered finger Thick eyebrow Sacral dimple Hypoplasia of the zygomatic bone Female infertility Decreased fertility in females Short foot IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis IgG deficiency Neoplasm of the gastrointestinal tract Hodgkin lymphoma IgA deficiency Nail dysplasia Pulmonary fibrosis High pitched voice Wide intermamillary distance Hand polydactyly Reduced number of teeth Low posterior hairline Spotty hyperpigmentation Agenesis of maxillary lateral incisor Talipes Wide mouth Macrotia Pulmonic stenosis Deeply set eye Aggressive behavior Microtia Blepharophimosis Abnormality of the pinna Hyperlordosis Intellectual disability, moderate Nail dystrophy Facial telangiectasia in butterfly midface distribution Pes cavus Poor speech Kyphosis Hypoplasia of the corpus callosum Ventricular septal defect Dry skin Downslanted palpebral fissures Hirsutism Downturned corners of mouth Hypodysplasia of the corpus callosum



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