Global developmental delay, and Acute lymphoblastic leukemia

Diseases related with Global developmental delay and Acute lymphoblastic leukemia

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

Top matches:

Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Other less relevant matches:

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Medium 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

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

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

Medium 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

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

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

Top 5 symptoms//phenotypes associated to Global developmental delay and Acute lymphoblastic leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Global developmental delay and Acute lymphoblastic leukemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Short stature Abnormal facial shape Hypertelorism Neoplasm Midface retrusion Short neck Ventriculomegaly Retrognathia Low-set ears Growth delay Lymphoma Cataract Muscular hypotonia Strabismus Micrognathia Cryptorchidism Microcephaly Motor delay Downslanted palpebral fissures Rhabdomyosarcoma Small for gestational age Wide nose Amenorrhea Macrocephaly Clinodactyly High forehead Posteriorly rotated ears Pachygyria Myopia Long philtrum Myelodysplasia Nystagmus Scoliosis Short nose Atrial septal defect Intrauterine growth retardation Ataxia Cleft palate Hearing impairment Cafe-au-lait spot

Rare Symptoms - Less than 30% cases

Patent ductus arteriosus Glaucoma Acute leukemia Hydrocephalus Spasticity Camptodactyly Premature chromatid separation Flexion contracture Hyperactivity Macrotia Generalized tonic-clonic seizures Umbilical hernia Abnormality of the pinna Prominent forehead Pes cavus Thrombocytopenia Kyphosis Inverted nipples Abnormality of the hair Mental deterioration Feeding difficulties in infancy Wide nasal bridge Anteverted nares Abnormality of the skeletal system Microphthalmia Immunodeficiency Abnormal heart morphology Hypospadias Agenesis of corpus callosum Upslanted palpebral fissure Brachycephaly Micropenis Postnatal growth retardation Combined immunodeficiency Muscular dystrophy Absent septum pellucidum Dandy-Walker malformation Short palpebral fissure Ambiguous genitalia Ventricular septal defect Primary amenorrhea High myopia Prominent fingertip pads Bulbous nose Nephroblastoma Edema Cleft upper lip Frontal bossing Hoarse voice Low anterior hairline Webbed neck Malar flattening Abnormality of the nervous system Neutropenia Failure to thrive Delayed speech and language development Otitis media Ptosis Muscle weakness B-cell lymphoma Pointed chin Abnormality of the sternum Hypertrichosis Growth hormone deficiency Pulmonic stenosis Congenital cataract Telecanthus Hyperhidrosis Cerebellar hypoplasia Delayed skeletal maturation Mandibular prognathia Broad forehead Low posterior hairline Sloping forehead Multiple cafe-au-lait spots Cerebellar atrophy Freckling Broad philtrum Bilateral talipes equinovarus Sacrococcygeal teratoma Broad thumb Lumbar kyphosis Limited elbow extension Slurred speech Fine hair Overgrowth Nail dysplasia Back pain Hernia Large hands Secondary amenorrhea Radial deviation of finger Flat occiput Round face Inguinal hernia Metatarsus adductus Large for gestational age Neonatal hypotonia Joint laxity Talipes Platyspondyly Overlapping toe Sparse hair Deep-set nails Lymphedema Tall stature Accelerated skeletal maturation Coxa valga Dilation of lateral ventricles Short ribs Broad face Poor fine motor coordination Calcaneovalgus deformity Large earlobe Dysarthria Thoracolumbar kyphosis Hydrocele testis Hypoplastic iliac wing Thin nail Dimple chin Talipes equinovarus Diastasis recti Down-sloping shoulders Galactorrhea Short fourth metatarsal Hypertonia Prolactin excess Vertebral wedging Behavioral abnormality Cutis laxa Joint contracture of the hand Horizontal eyebrow Teratoma Microretrognathia Flared femoral metaphysis Coloboma Bifid uvula Highly arched eyebrow Everted lower lip vermilion Thick vermilion border Iris coloboma Oral cleft Smooth philtrum Arthrogryposis multiplex congenita Microtia Wide mouth Postnatal microcephaly Joint stiffness Cleft lip Conductive hearing impairment Thin upper lip vermilion Coarse facial features Weight loss Cerebral cortical atrophy Abnormality of metabolism/homeostasis Dilatation Dystonia Heterotopia Aortic valve stenosis Feeding difficulties Protruding tongue Duplication of phalanx of hallux Unilateral ptosis Small thenar eminence Facial edema U-Shaped upper lip vermilion Congenital ptosis Retinal coloboma Widow's peak Depressed nasal tip Esophageal atresia Long palpebral fissure Spontaneous abortion Tracheoesophageal fistula Chorioretinal coloboma Overfolded helix Ectropion Trigonocephaly Bilateral ptosis Redundant skin Abnormality of the outer ear Bicuspid aortic valve Lissencephaly Intellectual disability, severe High palate Limited knee extension Apnea Coarctation of aorta Triangular face Ascites Long face Abnormality of skin pigmentation Dolichocephaly Corneal opacity Blepharophimosis Craniosynostosis Abnormality of the eye Low-set, posteriorly rotated ears Rhizomelia Deeply set eye Polyhydramnios Hypothyroidism Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Intellectual disability, mild Cognitive impairment Dysharmonic bone age Flared humeral metaphysis Abnormally low-pitched voice Depressed nasal ridge Multicystic kidney dysplasia Sensorineural hearing impairment Abnormal lung lobation Vaginal neoplasm Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Stomach cancer Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Duodenal atresia Abnormality of the skull Abnormality of immune system physiology Finger clinodactyly Atrioventricular canal defect Colon cancer Aplasia/Hypoplasia of the cerebellum Abnormality of vision Sleep apnea Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Holoprosencephaly Progressive vitiligo Osteolysis Pain Pneumonia Mastoiditis Short 5th metacarpal Visual impairment Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Abnormality of chromosome segregation Cerebral atrophy Short 4th metacarpal Upper limb undergrowth Lower limb hyperreflexia Mild short stature Foot dorsiflexor weakness Gingival overgrowth Recurrent otitis media Eczema Blindness Visual loss Polydactyly Narrow face Chorioretinal atrophy Cortical dysplasia Dextrocardia Ectopia lentis Pyloric stenosis Corneal dystrophy Macular degeneration Horizontal nystagmus Encephalocele Alopecia Thin skin Progressive visual loss Vesicoureteral reflux Retinal detachment Polymicrogyria Retinal degeneration Joint hyperflexibility Nyctalopia Skeletal dysplasia Abnormality of the dentition Aplasia cutis congenita Myeloid leukemia Hypoplasia of the corpus callosum Agranulocytosis Tonsillitis Monocytosis Congenital neutropenia Granulocytopenia Thrombocytosis Acute myeloid leukemia Increased antibody level in blood Optic nerve hypoplasia Eosinophilia Recurrent bacterial infections Bone marrow hypocellularity Meningitis Clumsiness Sepsis Hepatosplenomegaly Peripheral neuropathy Narrow forehead Hyperextensible skin Inguinal freckling Neurofibromas Pectus excavatum of inferior sternum Optic nerve glioma Prominent nasolabial fold Superior pectus carinatum Axillary freckling Lisch nodules Secundum atrial septal defect Broad neck Cubitus valgus Absent eyebrow Relative macrocephaly Specific learning disability Wide intermamillary distance Abnormal ventricular septum morphology Abnormality of lateral ventricle Multiple lentigines Abnormal aortic valve morphology Heat intolerance Occipital encephalocele Meningocele Malar prominence Bronchiectasis Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Lymphopenia Sinusitis Telangiectasia Chronic diarrhea Long nose Recurrent urinary tract infections Abnormality of the face Choanal atresia Cutaneous photosensitivity Convex nasal ridge Prominent nose Neurodegeneration Hemolytic anemia Non-midline cleft lip Abnormality of the musculature Prominent nasal bridge Abnormal hair quantity Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Glioma Autoimmune hemolytic anemia Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections Recurrent bronchitis Abnormal eyelid morphology Hearing abnormality Anal stenosis Neuroblastoma Anal atresia Attention deficit hyperactivity disorder Vitreoretinopathy Phthisis bulbi Severe global developmental delay Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Lymphangioma Generalized myoclonic seizures Band keratopathy Lens luxation Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Calvarial skull defect Renal cyst Oligohydramnios Intellectual disability, moderate Cerebral hypoplasia Hydronephrosis Respiratory failure Recurrent respiratory infections Diarrhea Respiratory insufficiency Skeletal muscle atrophy Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Triangular mouth Intellectual disability, profound Short sternum Mild microcephaly Multiple renal cysts Severe intrauterine growth retardation Bifid scrotum Limb-girdle muscular dystrophy Sarcoma Hyperpigmentation of the skin Small posterior fossa


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