Abnormal facial shape, and Acute lymphoblastic leukemia

Diseases related with Abnormal facial shape and Acute lymphoblastic leukemia

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


Top matches:

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 WEAVER SYNDROME; WVS


Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

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Other less relevant matches:

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Low match BARAITSER-WINTER SYNDROME 1; BRWS1


BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Low match SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Low match DUBOWITZ SYNDROME


Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match NOONAN SYNDROME


Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

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

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Leukemia

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Neoplasm

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Ventriculomegaly Muscular hypotonia Myopia Nystagmus Micrognathia Cataract Atrial septal defect Scoliosis Downslanted palpebral fissures Delayed skeletal maturation Hydrocephalus Clinodactyly Short nose Short neck Abnormality of cardiovascular system morphology Postnatal growth retardation Abnormal heart morphology Clinodactyly of the 5th finger High palate Patent ductus arteriosus Midface retrusion Growth delay Microcephaly Intrauterine growth retardation Anteverted nares Long philtrum Low-set ears Brachycephaly Myeloproliferative disorder High forehead Feeding difficulties in infancy Mandibular prognathia Wide nose Ventricular septal defect Brachydactyly Anemia Coarse facial features Ptosis Atrioventricular canal defect Sloping forehead Low-set, posteriorly rotated ears Thrombocytopenia Myelodysplasia Hydronephrosis Pointed chin Lymphedema Lymphoma Broad forehead Joint laxity Nephroblastoma Prominent fingertip pads Conductive hearing impairment Joint hyperflexibility Retrognathia Pachygyria Narrow face

Rare Symptoms - Less than 30% cases


Protruding tongue Hypertrichosis Webbed neck Overgrowth Fine hair Tall stature Broad thumb Heterotopia High myopia Hoarse voice Thick vermilion border Accelerated skeletal maturation Cutis laxa Narrow mouth Low posterior hairline Camptodactyly Acute monocytic leukemia Abnormality of the pinna Microtia Neonatal hypotonia Umbilical hernia Macrotia Aortic valve stenosis Low anterior hairline Prominent forehead Behavioral abnormality Redundant skin Talipes equinovarus Bilateral ptosis Macrocephaly Large hands Wide mouth Metatarsus adductus Abnormality of immune system physiology Depressed nasal ridge Short palpebral fissure Coarctation of aorta Thickened nuchal skin fold Triangular face Abnormality of the lymphatic system Abnormality of skin pigmentation Dolichocephaly Aplasia/Hypoplasia of the corpus callosum Blepharophimosis Craniosynostosis Polyhydramnios Hypothyroidism Microphthalmia Bulbous nose Delayed speech and language development Abnormality of the skeletal system Frontal bossing Cognitive impairment Sacrococcygeal teratoma Failure to thrive Vesicoureteral reflux Sensorineural hearing impairment Teratoma Glaucoma Feeding difficulties Edema Thick lower lip vermilion Hypoplastic iliac wing Inverted nipples Dysarthria Sparse hair Flexion contracture Pectus excavatum Dandy-Walker malformation Muscular dystrophy Small for gestational age Absent septum pellucidum Micropenis Joint hypermobility Upslanted palpebral fissure Posteriorly rotated ears Agenesis of corpus callosum High, narrow palate Hypospadias Ambiguous genitalia Otitis media Malar flattening Motor delay Recurrent infections Abnormality of the dentition Wide nasal bridge Narrow palate Cleft palate Abnormal dermatoglyphics High anterior hairline Amenorrhea Cafe-au-lait spot Rhabdomyosarcoma Sandal gap Acute leukemia Unilateral ptosis Premature chromatid separation Abnormality of neutrophils Abnormality of blood and blood-forming tissues Respiratory insufficiency Abnormality of the antihelix Prematurely aged appearance Sparse lateral eyebrow Rectal prolapse Broad palm Transposition of the great arteries Delayed cranial suture closure Decreased fertility Hydroureter Alzheimer disease Cholelithiasis Breast carcinoma Cutis marmorata Blindness Cerebellar atrophy Bilateral single transverse palmar creases Expressive language delay Senile plaques Abnormal glucose tolerance Anal stenosis Overbite Double outlet right ventricle Hamartomatous polyposis Hyperplasia of the maxilla Thrombocytosis Gray matter heterotopias Aplasia/Hypoplasia of the thumb Small cell lung carcinoma Abnormality of the cerebral ventricles Underdeveloped supraorbital ridges Submucous cleft hard palate Polycythemia Neurofibrillary tangles Congenital hypothyroidism Impaired pain sensation Renal hypoplasia/aplasia Abnormality of thumb phalanx Aganglionic megacolon Dementia Protruding ear Developmental regression Attention deficit hyperactivity disorder Toe syndactyly Polydactyly Malabsorption Dry skin Obesity Hypotrichosis Sparse scalp hair Cutaneous photosensitivity Gait disturbance Small hand Short foot Delayed eruption of teeth Asthma Eczema Abnormality of female external genitalia Chronic diarrhea Hypoplastic toenails Macroglossia Hypertension Sacral dimple Open mouth Spina bifida occulta Abnormality of the fingernails Wide anterior fontanel Type II diabetes mellitus Microdontia Postural instability Anal atresia Neutropenia Hypoparathyroidism Single transverse palmar crease Downturned corners of mouth Postaxial polydactyly Telecanthus Short palm Flat face Visual impairment Acute megakaryocytic leukemia Hypoxemia Elevated circulating luteinizing hormone level Reduced factor VIII activity Abnormal pulmonary valve morphology Intestinal lymphangiectasia Abnormality of the mandible Prolonged QRS complex Multiple lentigines Chylothorax Synovitis Abnormal hair quantity Enlarged thorax Abnormality of the pulmonary artery Shield chest Abnormal platelet function Thickened helices Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Redundant neck skin Elevated circulating follicle stimulating hormone level Abnormality of refraction Abnormality of the helix Abnormality of the testis Premature skin wrinkling Abnormality of the mouth Pulmonary artery stenosis Pulmonary lymphangiectasia Reduced factor XI activity Thoracic scoliosis Abnormal atrial septum morphology Acute myelomonocytic leukemia Juvenile myelomonocytic leukemia Monocytosis Refractory anemia Facial hypotonia Acute myeloid leukemia Myeloid leukemia Neurofibromas Splenomegaly Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Abnormal lymphatic vessel morphology Reduced factor XII activity Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Abnormal location of ears Puberty and gonadal disorders Neurofibrosarcoma Amegakaryocytic thrombocytopenia Prominent nasolabial fold Superior pectus carinatum Hyperkeratosis pilaris Aortic root aneurysm Curly hair Pulmonary edema Oxycephaly Hypertrophic cardiomyopathy Hepatosplenomegaly Kyphoscoliosis Gastroesophageal reflux Proptosis Hypogonadism Constipation Arrhythmia Dysphagia Hepatomegaly Muscle weakness Left-to-right shunt Neurological speech impairment Round ear Brushfield spots Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Ataxia Short middle phalanx of the 5th finger Complete atrioventricular canal defect Pectus carinatum Pulmonic stenosis Male infertility Coarse hair Abnormality of digit Cystic hygroma Prolonged bleeding time Abnormality of coagulation Myopathic facies Cubitus valgus Melanocytic nevus Pleural effusion Abnormality of the thorax Failure to thrive in infancy Radioulnar synostosis Abnormality of the urinary system Arnold-Chiari malformation Delayed puberty Scapular winging Hypogonadotrophic hypogonadism Amblyopia Decreased body weight Abnormality of the genital system Mitral regurgitation Mitral valve prolapse Tetralogy of Fallot Wide intermamillary distance Dental malocclusion Abnormal bleeding Bruising susceptibility Periventricular leukomalacia Exudative retinal detachment Cavum septum pellucidum Joint contracture of the hand Bilateral talipes equinovarus Large for gestational age Overlapping toe Flat occiput Radial deviation of finger Back pain Slurred speech Coxa valga Progressive visual loss Short ribs Nail dysplasia Secondary amenorrhea Thin skin Round face Talipes Platyspondyly Encephalocele Abnormality of the hair Hyperhidrosis Pes cavus Inguinal hernia Hernia Limited elbow extension Prolactin excess Hypertonia Short fourth metatarsal Retinal detachment Dysharmonic bone age Flared humeral metaphysis Abnormally low-pitched voice Limited knee extension Flared femoral metaphysis Lumbar kyphosis Deep-set nails Horizontal eyebrow Vertebral wedging Galactorrhea Down-sloping shoulders Thin nail Thoracolumbar kyphosis Calcaneovalgus deformity Poor fine motor coordination Dimple chin Broad philtrum Dilation of lateral ventricles Broad face Large earlobe Hydrocele testis Diastasis recti Kyphosis Horizontal nystagmus Intellectual disability, mild Aplasia cutis congenita of scalp Chorioretinal atrophy Occipital encephalocele Cerebellar hypoplasia Aplasia cutis congenita Immunodeficiency Meningocele Vitreoretinopathy Calvarial skull defect Large forehead Anomalous pulmonary venous return Total anomalous pulmonary venous return Severe global developmental delay Macular hypoplasia Lens luxation Band keratopathy Lymphangioma Phthisis bulbi Abnormal vitreous humor morphology Cerebellar malformation Cephalocele Bifid ureter Occipital meningocele Cortical dysplasia Generalized tonic-clonic seizures Spasticity Severe intrauterine growth retardation Pain Macular degeneration Corneal dystrophy Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Cerebral hypoplasia Triangular mouth Short sternum Mild microcephaly Multiple renal cysts Combined immunodeficiency Dextrocardia Bifid scrotum Pyloric stenosis Limb-girdle muscular dystrophy Ectopia lentis Sarcoma Hyperpigmentation of the skin Primary amenorrhea Intellectual disability, profound Oligohydramnios Generalized myoclonic seizures Renal cyst Polymicrogyria Retinal degeneration Advanced eruption of teeth Long palpebral fissure Duplication of phalanx of hallux Small thenar eminence Facial edema U-Shaped upper lip vermilion Congenital ptosis Retinal coloboma Widow's peak Depressed nasal tip Esophageal atresia Peripapillary atrophy Abnormality of the sternum Hyperreflexia Tracheoesophageal fistula Chorioretinal coloboma Overfolded helix Ectropion Trigonocephaly Abnormality of the outer ear Bicuspid aortic valve Lissencephaly Spontaneous abortion Postnatal microcephaly Small posterior fossa Optic atrophy Highly arched eyebrow Hypoplasia of dental enamel Long foot Enlarged cisterna magna Poor coordination Neuroblastoma Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Precocious puberty Reduced number of teeth Abnormal vertebral morphology Clumsiness Pes planus Small nail Apraxia Renal agenesis Hypodontia Genu valgum Hypermetropia Respiratory tract infection Abnormality of the kidney Aggressive behavior Carcinoma Jaundice Bifid uvula Everted lower lip vermilion Congenital cataract Osteolysis Abnormality of the skull Abnormal lung lobation Multiple cafe-au-lait spots Colon cancer Aplasia/Hypoplasia of the cerebellum Abnormality of vision Sleep apnea Aortic regurgitation Holoprosencephaly Microretrognathia Finger clinodactyly Abnormality of the upper limb Multicystic kidney dysplasia Rhizomelia Mental deterioration Growth hormone deficiency Ascites Long face Corneal opacity Abnormality of the eye Apnea Nyctalopia Deeply set eye Duodenal atresia Intestinal polyposis Iris coloboma Weight loss Oral cleft Cleft upper lip Smooth philtrum Arthrogryposis multiplex congenita Coloboma Joint stiffness Cleft lip Cerebral atrophy Thin upper lip vermilion Visual loss Cerebral cortical atrophy Subvalvular aortic stenosis Hyperactivity Abnormality of metabolism/homeostasis Dilatation Dystonia Intellectual disability, severe Alopecia Vaginal neoplasm Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Stomach cancer Chronic myelomonocytic leukemia



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