Abnormal facial shape, and Acute leukemia

Diseases related with Abnormal facial shape and Acute leukemia

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


Top matches:

Low 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

Low 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

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

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Other less relevant matches:

Low 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

Low 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

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

Low 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

Low match BLOOD GROUP, MN; MN


MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Antigens of the Ss blood group (OMIM ) reside on GYPB, and recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Low 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

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Anemia Seizures Myeloid leukemia Growth delay Generalized hypotonia Cataract Malar flattening Neoplasm Global developmental delay Micrognathia Cryptorchidism Upslanted palpebral fissure Chromosome breakage Nystagmus Lymphoma Epicanthus Strabismus Cleft palate Immunodeficiency Hydrocephalus Clinodactyly of the 5th finger Recurrent infections Postnatal growth retardation Acute monocytic leukemia Narrow face Short stature Midface retrusion Intrauterine growth retardation Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Telangiectasia Cutaneous photosensitivity Type II diabetes mellitus Pancytopenia Hypospadias Short nose Severe intrauterine growth retardation Telangiectasia of the skin Low-set ears Pachygyria Erythema Hypothyroidism Brachycephaly Combined immunodeficiency Ataxia Clinodactyly Posteriorly rotated ears Skin rash Delayed skeletal maturation Glaucoma Visual loss Small for gestational age Blindness Visual impairment Ventriculomegaly Abnormality of chromosome stability Prominent nose Hyperactivity Cerebral atrophy Cerebellar atrophy Cardiomyopathy Retrognathia Sarcoma Severe short stature Acute lymphoblastic leukemia Short neck Pes planus Spotty hypopigmentation Anteverted nares Micropenis Thin vermilion border Neurofibromas Synophrys Abnormality of the skeletal system Wide nasal bridge Renal cyst Generalized myoclonic seizures Wide nose Generalized tonic-clonic seizures Amenorrhea Oligohydramnios Ambiguous genitalia Intellectual disability, profound Primary amenorrhea Hyperpigmentation of the skin Limb-girdle muscular dystrophy Nephroblastoma Dandy-Walker malformation Kyphosis Bifid scrotum Multiple renal cysts Mild microcephaly Severe global developmental delay Rhabdomyosarcoma Triangular mouth Cerebral hypoplasia Premature chromatid separation Embryonal rhabdomyosarcoma Proportionate short stature Hypodysplasia of the corpus callosum Failure to thrive Diarrhea Abnormality of the dentition Intellectual disability, mild Short sternum Feeding difficulties in infancy Muscular dystrophy Band keratopathy Exudative retinal detachment Large basal ganglia Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Lens luxation Occipital meningocele Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Calvarial skull defect Peripapillary atrophy Bifid ureter Cone-shaped epiphyses of the phalanges of the hand Cerebellar hypoplasia Dislocated radial head High forehead Abnormally large globe Abnormal cortical gyration 11 pairs of ribs Agenesis of corpus callosum Selective tooth agenesis Cephalocele Lumbar scoliosis Small anterior fontanelle Long philtrum Ivory epiphyses Abnormal finger flexion creases Hypertelorism Hypoplasia of proximal radius Syndactyly Recurrent respiratory infections Clitoral hypertrophy Chronic obstructive pulmonary disease Facial asymmetry Decreased fertility in females IgM deficiency Abnormality of the nose Talipes Thick eyebrow Chronic lung disease Female infertility Hypoplastic pelvis Hypoplasia of the zygomatic bone Single transverse palmar crease Tapered finger IgG deficiency Triangular face Pulmonic stenosis Spotty hyperpigmentation IgA deficiency Scoliosis Hypoplasia of the corpus callosum Ventricular septal defect Pes cavus Downslanted palpebral fissures High palate Intellectual disability, moderate Hyperlordosis Hip dislocation Abnormality of the pinna Blepharophimosis Microtia Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Hodgkin lymphoma Dental malocclusion Pneumonia Hypoplasia of dental enamel Dolichocephaly Finger syndactyly Protruding ear Polydactyly Sloping forehead Cerebellar vermis hypoplasia Dental crowding Ichthyosis Diabetes mellitus Elbow flexion contracture Narrow palate Hyperhidrosis Sandal gap Patent foramen ovale Infertility Decreased antibody level in blood Vitreoretinopathy Azoospermia High pitched voice Squamous cell carcinoma Hand polydactyly Reduced number of teeth Hypopigmented skin patches Sacral dimple Sinusitis Convex nasal ridge Cafe-au-lait spot Bronchiectasis Abnormality of the face Hypertrichosis Specific learning disability Otitis media Abnormality of the skin Pulmonary fibrosis Myopia Meningocele Biparietal narrowing Flexion contracture Spasticity Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Severe combined immunodeficiency Leukocytosis Dysphagia Psoriasiform dermatitis Low anterior hairline Hypoplasia of penis Lymphadenopathy Malabsorption Telecanthus Abnormality of the nervous system Feeding difficulties Dystonia Hepatomegaly Neutropenia Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Aciduria Increased serum lactate Brain atrophy Gliosis Abnormality of movement Encephalopathy Attention deficit hyperactivity disorder Abnormal pyramidal sign Developmental regression Neonatal hypotonia Rigidity Respiratory failure Myoclonus Thrombocytopenia Delayed speech and language development Choreoathetosis Chronic myelomonocytic leukemia Wide mouth Aggressive behavior Deeply set eye Macrotia Absent speech Macrocephaly Acute myelomonocytic leukemia Poor speech Juvenile myelomonocytic leukemia Monocytosis Refractory anemia Myeloproliferative disorder Facial hypotonia Narrow mouth Splenomegaly Nail dystrophy Dry skin Hypointensity of cerebral white matter on MRI Prominent supraorbital ridges Regional abnormality of skin Almond-shaped palpebral fissure Abnormal hair whorl Broad face Echolalia Broad neck Broad hallux Generalized hirsutism Hirsutism Increased body weight Low posterior hairline Wide intermamillary distance Nail dysplasia Hypopigmentation of the skin Short foot Downturned corners of mouth Progressive neurologic deterioration Opisthotonus Aplasia cutis congenita Motor delay Joint hyperflexibility Congenital cataract Nyctalopia Mental deterioration Alopecia Patent ductus arteriosus Neuroblastic tumors Polymicrogyria Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Retinal degeneration Bulbous nose Sebaceous gland carcinoma Corneal dystrophy Occipital encephalocele Absent septum pellucidum Chorioretinal atrophy Cortical dysplasia Dextrocardia Ectopia lentis Pyloric stenosis Macular degeneration Retinal detachment Horizontal nystagmus Abnormality of the hair Encephalocele Thin skin High myopia Progressive visual loss Vesicoureteral reflux Neoplasm of the eye Liposarcoma Progressive encephalopathy Headache Anorexia Postural instability Abnormality of skin pigmentation Carcinoma Proptosis Weight loss Vomiting Cellulitis Pain Hearing impairment Congenital neutropenia 3-Methylglutaconic aciduria Dysgraphia Upper motor neuron dysfunction Dyslexia Increased intracranial pressure Uveitis Histiocytoma Leiomyosarcoma Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Soft tissue sarcoma Anisocoria Osteosarcoma Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Astrocytoma Anemia of inadequate production Hypoplasia of proximal fibula



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