Delayed speech and language development, and Myeloid leukemia

Diseases related with Delayed speech and language development and Myeloid leukemia

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Myeloid leukemia that can help you solving undiagnosed cases.


Top matches:

Medium match NOONAN SYNDROME 6; NS6

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment


SOURCES: MESH GARD MONDO DOID OMIM UMLS

More info about NOONAN SYNDROME 6; NS6

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

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.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN Is also known as mental retardation, x-linked, syndromic 30;mrxs30;x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

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


SOURCES: ORPHANET UMLS OMIM MONDO DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

Medium match NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL

Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1 ) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by Martinelli et al., 2010). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML ), as also seen in patients with Noonan syndrome (summary by Niemeyer et al., 2010).

NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL Is also known as cbl syndrome, cbl mutation-associated syndrome;cbl syndrome; noonan syndrome-like disorder with jmml

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: MONDO OMIM ORPHANET UMLS

More info about NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL

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Other less relevant matches:

Medium match ACHONDROPLASIA; ACH

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment


SOURCES: ICD10 NCIT DOID MESH GARD MONDO OMIM

More info about ACHONDROPLASIA; ACH

Low match PRADER-WILLI SYNDROME; PWS

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM

More info about PRADER-WILLI SYNDROME; PWS

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3; MVA3

MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017).For a discussion of genetic heterogeneity of MVA, see MVA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3; MVA3

Low match NOONAN SYNDROME 3; NS3

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Hypertelorism


SOURCES: MESH GARD MONDO UMLS OMIM DOID

More info about NOONAN SYNDROME 3; NS3

Low match 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN

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 WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN Is also known as 3-methylglutaconic aciduria, type vii;mgca7;3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome; mga7

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: DOID EFO ORPHANET UMLS OMIM MONDO

More info about 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN

Low match SHWACHMAN-DIAMOND SYNDROME; SDS

Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopenias. Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients (summary by Dror and Freedman, 1999).For a review of Shwachman-Diamond syndrome, see Dror and Freedman (2002).

SHWACHMAN-DIAMOND SYNDROME; SDS Is also known as pancreatic insufficiency and bone marrow dysfunction, shwachman-bodian syndrome, lipomatosis of pancreas, congenital;pancreatic insufficiency and bone marrow dysfunction; sds; shwachman syndrome; shwachman-bodian-diamond syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET UMLS OMIM SCTID MONDO

More info about SHWACHMAN-DIAMOND SYNDROME; SDS

Low match DYSKERATOSIS CONGENITA, X-LINKED; DKCX

Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

DYSKERATOSIS CONGENITA, X-LINKED; DKCX Is also known as zinsser-cole-engman syndrome;progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM GARD SCTID MESH MONDO

More info about DYSKERATOSIS CONGENITA, X-LINKED; DKCX

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia 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 Delayed speech and language development and Myeloid leukemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Pica Acute myeloid leukemia Depressed nasal bridge Seizures Macrocephaly Polyhydramnios Abnormal facial shape Failure to thrive Microcephaly Neoplasm Epicanthus Myopathy Cryptorchidism Carious teeth Sepsis Hypopigmentation of the skin Cardiomyopathy Strabismus Myelodysplasia Anemia Low-set ears Nevus Edema Juvenile myelomonocytic leukemia Ventriculomegaly Abnormality of the nervous system Hypertelorism Autosomal dominant inheritance Intellectual disability, mild Webbed neck Frontal bossing Downslanted palpebral fissures Ptosis Hearing impairment Hypertension

Rare Symptoms - Less than 30% cases


Recurrent infections Lymphoma Bone marrow hypocellularity Leukopenia Hepatosplenomegaly Sleep apnea Postnatal growth retardation Scarring Tics Intrauterine growth retardation Aortic valve stenosis Posteriorly rotated ears Feeding difficulties Sleep disturbance Attention deficit hyperactivity disorder Neonatal respiratory distress Abnormality of the skeletal system Acrania Autosomal recessive inheritance Clonus Apnea Cataract Weight loss Skeletal dysplasia Rigidity Hyporeflexia Hyperactivity Obesity Osteopenia Bicuspid aortic valve Aplastic anemia Pain Flared metaphysis Flexion contracture Motor delay Neonatal hypotonia Abnormality of the dentition Respiratory tract infection Dolichocephaly Poor suck Short nose Deep philtrum Pectus excavatum Almond-shaped palpebral fissure Splenomegaly Gliosis Anteverted nares Macrotia Micropenis Immunodeficiency Upslanted palpebral fissure X-linked recessive inheritance Midface retrusion Malar flattening Short neck Thrombocytopenia Small for gestational age Broad neck Respiratory distress Growth hormone deficiency Pulmonic stenosis Broad forehead Cor pulmonale Intestinal bleeding Oxycephaly Myopia Hypopnea Chromosome breakage Neutropenia Osteoporosis Wide intermamillary distance Optic atrophy Infantile muscular hypotonia Cognitive impairment Ataxia Gastrointestinal hemorrhage Specific learning disability Pancytopenia Oligohydramnios Nail dystrophy Low posterior hairline Increased body weight Short foot Downturned corners of mouth Nystagmus Scoliosis Decreased fetal movement Abnormal pyramidal sign Cerebral atrophy Athetosis Abnormality of movement Dystonia Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Progressive Congenital onset Spasticity Brain atrophy Dysphagia Increased serum lactate Myoclonus Respiratory failure Hypothyroidism Cerebellar atrophy Developmental regression Poor gross motor coordination Dysplastic pulmonary valve Acrocyanosis Abdominal obesity Anteverted ears Frontal upsweep of hair Generalized hypopigmentation Labial hypoplasia Hypothermia Narrow nasal bridge Oligomenorrhea Ocular albinism Abnormality of lipid metabolism Poor fine motor coordination Overweight Hypoplasia of the fovea Iris hypopigmentation Central hypotonia Hypoventilation Striae distensae Impaired pain sensation Hypopigmentation of hair Polyphagia Clitoral hypoplasia Erysipelas Atrial septal dilatation Premature chromatid separation Hypoplastic nasal bridge Myeloproliferative disorder Sagittal craniosynostosis Cystic hygroma Pterygium Craniosynostosis Atrial septal defect Ventricular septal defect High palate Nephroblastoma Triangular mouth Severe global developmental delay Arthrogryposis multiplex congenita Acromicria Hypoplastic labia minora Narrow palm Temperature instability Central adrenal insufficiency Disseminated intravascular coagulation Psychotic episodes Choreoathetosis Metaphyseal chondrodysplasia Opisthotonus Horseshoe kidney Increased antibody level in blood Premature graying of hair Pulmonary fibrosis Squamous cell carcinoma Phimosis Anosmia Dermal atrophy Sparse eyelashes Conjunctivitis Telangiectasia Abnormality of coagulation Truncal ataxia Hyperpigmentation of the skin Sparse scalp hair Cerebral calcification Decreased testicular size Cirrhosis Abnormality of skin pigmentation Ranula Carcinoma Muscular hypotonia of the trunk Restrictive ventilatory defect Generalized hyperpigmentation Alopecia Opportunistic infection Split nail Pterygium of nails Anal mucosal leukoplakia Brittle scalp hair Fragile teeth Abnormal leukocyte morphology Reticulated skin pigmentation Pancreatic adenocarcinoma Reticular hyperpigmentation Keratoconjunctivitis Gastric ulcer Epiphora Urethral stenosis Lacrimal duct stenosis Excessive wrinkled skin Esophageal stricture Ridged nail Oral leukoplakia Oral ulcer Blepharitis Premature loss of teeth Hodgkin lymphoma Hyperhidrosis Cerebral cortical atrophy Nuclear cataract Malabsorption Coxa vara Short ribs Nephrocalcinosis Recurrent bacterial infections Apraxia Abnormality of the metaphysis Microdontia Generalized muscle weakness Eczema Ichthyosis Metaphyseal widening Narrow chest Pectus carinatum Elevated hepatic transaminase Delayed skeletal maturation Gait disturbance Hepatomegaly Congenital neutropenia Upper motor neuron dysfunction Dysgraphia Dyslexia Type I diabetes mellitus Lipoma Cerebellar hypoplasia Persistence of hemoglobin F Hypospadias Hypertonia Visual impairment Irregular ossification at anterior rib ends Narrow sacroiliac notch Myocardial necrosis Metaphyseal dysostosis Proximal femoral epiphysiolysis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Short thorax Metaphyseal sclerosis Anterior rib cupping External genital hypoplasia Acute monocytic leukemia Recurrent aphthous stomatitis Recurrent viral infections Ovoid vertebral bodies Exocrine pancreatic insufficiency Steatorrhea Multiple lipomas Inflammation of the large intestine Thin upper lip vermilion Truncal obesity Severe short stature Confusion Lumbar hyperlordosis Oral cleft Cleft lip Hyperlordosis Conductive hearing impairment Arthralgia Gastroesophageal reflux Hydrocephalus Tetraparesis Brachydactyly Hyperreflexia Arteritis Chylothorax B-cell lymphoma Short attention span Pleural effusion Overfolded helix Cafe-au-lait spot Otitis media Recurrent otitis media Redundant skin Spondyloepiphyseal dysplasia Megalencephaly Hip contracture Back pain Bowel incontinence Limited elbow extension Disproportionate short-limb short stature Short femoral neck Tibial bowing Chronic otitis media Anal stenosis Epidermal acanthosis Tinnitus Genu varum Acanthosis nigricans Paraparesis Abnormal lung morphology Epiphyseal dysplasia Rhizomelia Overgrowth Recurrent urinary tract infections Cubitus valgus Hydrops fetalis Spinal canal stenosis Long eyebrows Dry skin Thin vermilion border Synophrys Deeply set eye Wide mouth Aggressive behavior Pes planus Absent speech Asymmetry of the thorax Poor speech Curly hair Bilateral ptosis Relative macrocephaly Hypertrophic cardiomyopathy Hyperkeratosis High forehead Abnormal heart morphology Abnormality of cardiovascular system morphology Sensorineural hearing impairment Hirsutism Nail dysplasia Vasculitis Sparse hair Lymphedema Mitral regurgitation Fine hair Ascites Thick vermilion border Falls Highly arched eyebrow Triangular face Joint hypermobility Joint laxity Generalized hirsutism Long philtrum Regional abnormality of skin Hypointensity of cerebral white matter on MRI Abnormal hair whorl Spotty hypopigmentation Broad face Echolalia Broad hallux Prominent supraorbital ridges Disproportionate short stature Neuroblastoma Adrenal insufficiency Tapered finger Hip dysplasia Amenorrhea Spontaneous abortion Febrile seizures Esotropia Full cheeks Small hand Infertility Stroke Narrow forehead Arachnodactyly Hypermetropia Polymicrogyria Short palm Genu valgum Delayed puberty Pruritus Abnormality of the pinna Sporadic Type II diabetes mellitus Psychosis Photophobia Precocious puberty Decreased muscle mass Failure to thrive in infancy Glucose intolerance Skeletal muscle hypertrophy Large hands Albinism Scrotal hypoplasia Radial deviation of finger Emotional lability Narrow palpebral fissure Primary amenorrhea Hyperinsulinemia Nasal speech Hypogonadotrophic hypogonadism Bradycardia Insulin resistance Cyanosis Clumsiness Abnormality of the cardiovascular system Cutaneous photosensitivity Hypoglycemia Autism Small face Hypoxemia Iritis Cervical cord compression Obstructive lung disease Cervical myelopathy Central sleep apnea Chronic myelogenous leukemia Thoracolumbar kyphosis Neonatal short-limb short stature Multiple epiphyseal dysplasia Myelopathy Small foramen magnum Communicating hydrocephalus Generalized joint laxity Dysuria Upper airway obstruction Central apnea Spinal cord compression Obstructive sleep apnea Myelitis Osteopetrosis Enlarged tonsils Brain stem compression Hypogonadism Behavioral abnormality Prominent forehead Diabetes mellitus Narrow mouth Clinodactyly Recurrent respiratory infections Dilatation Syndactyly Congestive heart failure Vomiting Kyphosis Limited hip extension Talipes equinovarus Intellectual disability, severe Fever Milia Muscular hypotonia Micrognathia Lumbar kyphosis in infancy Spinal stenosis with reduced interpedicular distance Trident hand Generalized hypopigmentation of hair



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