Muscular hypotonia, and Bone marrow hypocellularity

Diseases related with Muscular hypotonia and Bone marrow hypocellularity

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Bone marrow hypocellularity that can help you solving undiagnosed cases.

Top matches:

Pancytopenia-developmental delay syndrome is a rare, genetic, hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.

PANCYTOPENIA-DEVELOPMENTAL DELAY SYNDROME Is also known as trilineage bone marrow failure-developmental delay syndrome

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Anemia
  • Thrombocytopenia
  • Neonatal hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PANCYTOPENIA-DEVELOPMENTAL DELAY SYNDROME

Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 Is also known as osteopetrosis, infantile malignant 3

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Other less relevant matches:

GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

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

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Medium match REVESZ SYNDROME

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Bone marrow hypocellularity

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Bone marrow hypocellularity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pancytopenia Microcephaly Anemia Seizures Growth delay Failure to thrive Ataxia Hypertonia Immunodeficiency Intrauterine growth retardation Hepatosplenomegaly Leukopenia Sepsis Leukemia Hearing impairment Oral leukoplakia Scoliosis Abnormality of the dentition Narrow chest Small for gestational age Myelodysplasia Spasticity Recurrent bacterial infections Myeloid leukemia Recurrent infections Cerebellar hypoplasia Acute myeloid leukemia Aplastic anemia Neutropenia Carious teeth Nail dystrophy Optic atrophy Abnormality of skin pigmentation Craniosynostosis Hydrocephalus Ventriculomegaly

Rare Symptoms - Less than 30% cases

Microdontia Cataract Cryptorchidism Hypopigmentation of the skin Muscular hypotonia of the trunk Alopecia Low-set ears Decreased antibody level in blood Osteoporosis Postnatal growth retardation Hepatomegaly Nystagmus Urethral stenosis Abnormality of metabolism/homeostasis Cerebral atrophy Strabismus Neonatal respiratory distress Otitis media Infantile muscular hypotonia Chromosome breakage Osteopenia Intellectual disability, mild Respiratory distress Neoplasm Eczema Visual impairment Abnormal eyelash morphology Premature graying of hair Pyloric stenosis Reticulated skin pigmentation Progressive neurologic deterioration Fine hair Hypospadias Brachydactyly Increased antibody level in blood Frontal bossing Horseshoe kidney Pectus excavatum Hyperpigmentation of the skin Constipation Smooth philtrum Sparse hair Cerebral calcification Abnormality of the skeletal system Toe syndactyly Facial asymmetry Atrial septal defect Talipes Congestive heart failure Dolichocephaly Hip dislocation Neurological speech impairment Anal atresia Tachycardia Bruising susceptibility Behavioral abnormality High forehead Abnormal facial shape Anteverted nares Talipes equinovarus Webbed neck Intestinal malrotation Micrognathia Premature birth Sensorineural hearing impairment Postural instability Wide nasal bridge Microcornea Single transverse palmar crease Macrocephaly Short neck Iris coloboma Skin rash Finger syndactyly Coloboma Attention deficit hyperactivity disorder Pes planus Inguinal hernia Downslanted palpebral fissures Hypoglycemia Clinodactyly of the 5th finger Flexion contracture Thin upper lip vermilion Retrognathia Abnormal heart morphology Agenesis of corpus callosum Recurrent respiratory infections Prominent forehead Feeding difficulties Hypogonadism Hypothyroidism Ptosis Patent ductus arteriosus Abnormal cardiac septum morphology Intellectual disability, moderate Short nose Depressed nasal bridge Epicanthus Feeding difficulties in infancy Camptodactyly Low-set, posteriorly rotated ears Telecanthus Clinodactyly Long philtrum Syndactyly Hydronephrosis Microphthalmia Abnormality of cardiovascular system morphology Hernia Ventricular septal defect Trigonocephaly Growth hormone deficiency Annular pancreas Peripheral neuropathy Motor delay Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Abnormality of the anus Abnormality of the nervous system Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Long hallux Abnormality of the head Nasolacrimal duct obstruction Cerebellar atrophy Clumsiness Abnormal thrombocyte morphology Intellectual disability, profound Exudative retinopathy Leukocoria Ridged fingernail Nail pits Megalocornea Purpura Broad-based gait Retinopathy CNS hypomyelination Absent speech Meningitis Midface retrusion Agranulocytosis Tonsillitis Monocytosis Congenital neutropenia Granulocytopenia Acute lymphoblastic leukemia Thrombocytosis Eosinophilia Broad columella Labial hypoplasia Dehydration Multicystic kidney dysplasia Ectropion Anal mucosal leukoplakia Hand polydactyly Schizophrenia Tachypnea Abnormal palate morphology Azoospermia Holoprosencephaly Spina bifida Heart murmur Aortic valve stenosis Leukodystrophy Short toe Sinusitis Short thumb Amblyopia Pachygyria Abnormal form of the vertebral bodies Coarctation of aorta Chorioretinal coloboma Hammertoe Aplasia/Hypoplasia of the earlobes Missing ribs Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Double outlet right ventricle Flat occiput Bipolar affective disorder Wheezing Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Hypertelorism Decreased fetal movement Pterygium of nails Vomiting Lymphadenopathy Abnormality of movement Nausea and vomiting Lethargy Rigidity Jaundice Splenomegaly Edema Abnormal cerebellum morphology Fever Broad phalanx of the toes Pes valgus Broad distal phalanx of finger Sagittal craniosynostosis Elevated serum creatinine Cutaneous finger syndactyly Ascites Peripheral demyelination Chronic kidney disease Pulmonary infiltrates Abnormality of neutrophils Partial albinism Hemophagocytosis Generalized edema White hair Edema of the lower limbs Abnormal eyebrow morphology Abnormality of lipid metabolism Hepatitis Iris hypopigmentation Petechiae Albinism Hypopigmented skin patches Reduced tendon reflexes Cranial nerve paralysis Hyperlipidemia Encephalocele Nephronophthisis Cone/cone-rod dystrophy Cutaneous anergy Increased bone mineral density Extramedullary hematopoiesis Generalized osteosclerosis Osteopetrosis Arnold-Chiari type I malformation Severe vision loss Pathologic fracture Arnold-Chiari malformation Brain atrophy Absence of renal corticomedullary differentiation Hepatic failure Irritability Facial palsy Proptosis Blindness Increased sensitivity to ionizing radiation Abnormality of the outer ear Neonatal hypotonia Cranial hyperostosis Decreased osteoclast count Cutis laxa Nephropathy Recurrent pneumonia Hepatic fibrosis Limb undergrowth Hip dysplasia Ectodermal dysplasia Asthma Full cheeks Short distal phalanx of finger Hypertension Thin vermilion border Joint hypermobility Stage 5 chronic kidney disease Hypermetropia Protruding ear Rod-cone dystrophy Pneumonia Renal insufficiency Reduced delayed hypersensitivity Silver-gray hair Split nail Conjunctivitis Squamous cell carcinoma Epiphora Pterygium Dermal atrophy Anosmia Abnormal intestine morphology Sparse eyelashes Truncal ataxia Pulmonary fibrosis Telangiectasia Sparse scalp hair Oligohydramnios Decreased testicular size Gastrointestinal hemorrhage Gliosis Cirrhosis Carcinoma Flared metaphysis Abnormality of coagulation Hyperhidrosis Lacrimal duct stenosis Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Phimosis Abnormal leukocyte morphology Pancreatic adenocarcinoma Reticular hyperpigmentation Keratoconjunctivitis Restrictive ventilatory defect Esophageal stricture Excessive wrinkled skin Testicular atrophy Ridged nail Blepharitis Premature loss of teeth Hodgkin lymphoma Generalized hyperpigmentation Cerebral cortical atrophy Hyporeflexia Melanin pigment aggregation in hair shafts Generalized muscle weakness Nephrocalcinosis Type I diabetes mellitus Short ribs Decreased liver function Abnormality of the metaphysis Apraxia Specific learning disability Ichthyosis Metaphyseal widening Malabsorption Pectus carinatum Respiratory tract infection Elevated hepatic transaminase Skeletal dysplasia Delayed skeletal maturation Gait disturbance Accumulation of melanosomes in melanocytes Coxa vara Short thorax Irregular ossification at anterior rib ends Persistence of hemoglobin F Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Metaphyseal sclerosis Steatorrhea Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Acute monocytic leukemia Recurrent viral infections Ovoid vertebral bodies Exocrine pancreatic insufficiency Multiple lipomas Fine, reticulate skin pigmentation


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