Macrocephaly, and Acute leukemia

Diseases related with Macrocephaly and Acute leukemia

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

Top matches:

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

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

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

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

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

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

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

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:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Top 5 symptoms//phenotypes associated to Macrocephaly and Acute leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Hypertelorism Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Acute leukemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Low-set ears Acute lymphoblastic leukemia Depressed nasal bridge Seizures Pulmonic stenosis Atrial septal defect Cryptorchidism Ptosis Generalized hypotonia Strabismus Ventricular septal defect Neoplasm Cognitive impairment Hypertrophic cardiomyopathy Abnormal facial shape Abnormal heart morphology Cafe-au-lait spot Overgrowth Webbed neck Frontal bossing Intellectual disability, mild Failure to thrive Behavioral abnormality Cardiomyopathy Edema Patent ductus arteriosus Multiple cafe-au-lait spots Pain Low posterior hairline Macrotia Relative macrocephaly Short neck Prominent forehead Lymphoma Hearing impairment Broad neck High palate Kyphosis

Rare Symptoms - Less than 30% cases

Joint laxity Neonatal hypotonia Broad forehead Mandibular prognathia Sparse hair Dolichocephaly Dysarthria Myopia Pectus excavatum Cystic hygroma Scaphocephaly Micrognathia Juvenile myelomonocytic leukemia Umbilical hernia Pes cavus Motor delay Tall stature Neoplasm of the central nervous system Headache Carcinoma Sacrococcygeal teratoma Teratoma Hydrocele testis Prolactin excess Large hands Back pain Genu valgum Joint hypermobility Hamartomatous polyposis Hydrocephalus Dilatation Broad thumb Autism Mitral valve prolapse Breast carcinoma Incoordination Accelerated skeletal maturation Pointed chin Renal cell carcinoma Meningioma Lymphedema Astrocytoma Abnormality of the kidney Cutis laxa Precocious puberty Curly hair Wide intermamillary distance Polyhydramnios Hyperkeratosis Inguinal freckling Nail dysplasia Optic nerve glioma Axillary freckling Lisch nodules Freckling Aggressive behavior Neurofibromas Specific learning disability Posteriorly rotated ears Muscle weakness Midface retrusion Pes planus Acute myeloid leukemia Abnormality of the cardiovascular system Broad face Malar flattening Nail dystrophy Sensorimotor neuropathy Aganglionic megacolon Cataract Ataxia Brow ptosis Tibial pseudoarthrosis Bone pain Cerebral artery stenosis Arterial fibromuscular dysplasia Spina bifida Micropenis Spinal neurofibromas Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Atherosclerosis Neurofibrosarcoma Venous thrombosis Brachydactyly Skeletal muscle atrophy Vestibular Schwannoma Hypsarrhythmia Intention tremor Decreased antibody level in blood Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Polymicrogyria Nausea and vomiting Papule Tremor Intellectual disability, moderate Proximal muscle weakness Hypothyroidism Narrow mouth Upslanted palpebral fissure Recurrent infections Immunodeficiency Diarrhea Myopathy Neuroma Reduced bone mineral density Embryonal rhabdomyosarcoma Parathyroid adenoma Paraganglioma Hypophosphatemia Night sweats Pulmonary fibrosis Anomalous pulmonary venous return Tibial bowing Complete atrioventricular canal defect Pheochromocytoma Aqueductal stenosis Sensory axonal neuropathy Osteomalacia Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Wide mouth Gangrene Increased reactive oxygen species production Overweight Carcinoid tumor Rhabdomyosarcoma Severe vision loss Subcutaneous nodule Renovascular hypertension Poor speech Renal artery stenosis Single ventricle Pseudoarthrosis Synophrys Soft tissue sarcoma Epigastric pain Leiomyosarcoma Clitoral hypertrophy Fibular bowing Sarcoma Gastrointestinal stroma tumor Deeply set eye Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Dural ectasia Drooling Telangiectasia Colorectal polyposis Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Endometrial carcinoma Dysplastic gangliocytoma of the cerebellum Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Trichilemmoma Conjunctival hamartoma Decreased proportion of CD4-positive T cells Long eyebrows Atrial septal dilatation Hypoplastic nasal bridge Myeloproliferative disorder Sagittal craniosynostosis Pterygium Deep philtrum Craniosynostosis Short nose Anteverted nares Asymmetry of the thorax Ductal carcinoma in situ Bilateral ptosis Growth hormone deficiency High forehead Wide nasal bridge Sensorineural hearing impairment Growth delay Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Adenoma sebaceum Generalized hyperkeratosis Chronic diarrhea Goiter Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Palmoplantar hyperkeratosis Melanoma Cellulitis Hypopigmented skin patches Increased intracranial pressure Hemangioma Dry skin Cranial nerve paralysis Neoplasm of the skin Lymphopenia Gynecomastia Exotropia Absent speech Hamartoma Fibroma Furrowed tongue Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Abnormality of the uterus Arteriovenous malformation Hyperthyroidism Megalencephaly Skin tags Papilledema Abnormality of the vasculature Lipoma Hashimoto thyroiditis Hodgkin lymphoma Thyroiditis Ovarian neoplasm Coarctation of aorta Pruritus Tetralogy of Fallot Cubitus valgus Regional abnormality of skin Hypointensity of cerebral white matter on MRI Slurred speech Coxa valga Telecanthus Short ribs Hoarse voice Joint contracture of the hand Pachygyria Flat occiput Hypertrichosis Fine hair Amenorrhea Secundum atrial septal defect Round face Talipes Platyspondyly Abnormality of the pinna Camptodactyly Radial deviation of finger Metatarsus adductus Prominent nasolabial fold Abnormal hair whorl Spotty hypopigmentation Thin nail Thoracolumbar kyphosis Calcaneovalgus deformity Poor fine motor coordination Dimple chin Broad philtrum Dilation of lateral ventricles Large earlobe Hypoplastic iliac wing Overlapping toe Diastasis recti Down-sloping shoulders Almond-shaped palpebral fissure Inverted nipples Secondary amenorrhea Absent septum pellucidum Limited elbow extension Bilateral talipes equinovarus Large for gestational age Superior pectus carinatum Retrognathia Prominent fingertip pads Skeletal dysplasia Lower limb hyperreflexia Mild short stature Foot dorsiflexor weakness Gingival overgrowth Recurrent otitis media Eczema Neutropenia Generalized tonic-clonic seizures Left ventricular hypertrophy Polydactyly Short 4th metacarpal Hyperpigmentation of the skin Hyperextensible skin Thrombocytopenia Systemic lupus erythematosus Abnormality of the dentition Pleural effusion Abnormality of the sternum Palmoplantar cutis laxa Chylothorax Upper limb undergrowth Abnormality of chromosome segregation Hyperhidrosis Spasticity Delayed skeletal maturation Inguinal hernia Clinodactyly Hernia Long philtrum Pectus excavatum of inferior sternum Hypertonia Talipes equinovarus Flexion contracture Muscular hypotonia Short 5th metacarpal Abnormal cardiac septum morphology Ventricular hypertrophy Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Galactorrhea Short fourth metatarsal Gastrointestinal hemorrhage Small cell lung carcinoma Blindness Hypopigmentation of the skin Respiratory insufficiency Abnormality of the skeletal system Peripheral neuropathy Hypertension Visual impairment Anemia Abnormality of the cerebral ventricles Gray matter heterotopias Downturned corners of mouth Expressive language delay Hyperplasia of the maxilla Overbite Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Cavum septum pellucidum Advanced eruption of teeth Long foot Short foot Hirsutism High anterior hairline Autistic behavior Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Facial asymmetry Malabsorption Graves disease Attention deficit hyperactivity disorder Paralysis Hypoglycemia Abnormality of cardiovascular system morphology Osteopenia Kyphoscoliosis Thin vermilion border Weight loss Glaucoma Hyperactivity Osteoporosis Visual loss Depressivity Enlarged cisterna magna Poor coordination Vertebral wedging Hyperreflexia Prominent supraorbital ridges Respiratory tract infection Broad hallux Myeloid leukemia Conductive hearing impairment Jaundice Coarse facial features Ventriculomegaly Optic atrophy Nystagmus Generalized hirsutism Echolalia Dysharmonic bone age Flared humeral metaphysis Abnormally low-pitched voice Limited knee extension Flared femoral metaphysis Lumbar kyphosis Deep-set nails Horizontal eyebrow Hypermetropia Increased body weight Neuroblastoma Abnormal vertebral morphology Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Nephroblastoma Redundant skin Reduced number of teeth Abnormal dermatoglyphics Narrow palate Narrow face Hypoplasia of dental enamel High, narrow palate Heterotopia Clumsiness Small nail Apraxia Sloping forehead Renal agenesis Otitis media Vesicoureteral reflux Hypodontia Dysplastic pulmonary valve


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