Global developmental delay, and Abnormality of the metaphysis

Diseases related with Global developmental delay and Abnormality of the metaphysis

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

Top matches:

Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK Is also known as immunoosseous dysplasia, krakow type

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Immunodeficiency
  • Skeletal dysplasia
  • Rhizomelia


SOURCES: OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

Other less relevant matches:

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.

DIHYDROPTERIDINE REDUCTASE DEFICIENCY Is also known as hyperphenylalaninemia due to dihydropteridine reductase deficiency|pku type 2|phenylketonuria type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIHYDROPTERIDINE REDUCTASE DEFICIENCY

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (OMIM ).

ANAUXETIC DYSPLASIA Is also known as spondyloepimetaphyseal dysplasia, menger type|spondyloepimetaphyseal dysplasia, anauxetic type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANAUXETIC DYSPLASIA

Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see {300009}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS

Top 5 symptoms//phenotypes associated to Global developmental delay and Abnormality of the metaphysis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Abnormality of the metaphysis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Generalized hypotonia Metaphyseal irregularity

Rare Symptoms - Less than 30% cases

Myopia High palate High myopia Increased vertebral height Pectus excavatum Cataract Scoliosis Mild short stature Severe short stature Metaphyseal dysplasia Mild global developmental delay Sparse hair Kyphoscoliosis Craniosynostosis Cognitive impairment Spondyloepimetaphyseal dysplasia Skeletal dysplasia Rhizomelia Proximal tubulopathy Broad ribs Cubitus valgus Increased serum 1,25-dihydroxyvitamin D3 Cone-shaped epiphysis Short femoral neck Thoracolumbar scoliosis Ovoid vertebral bodies Shield chest Hypoplastic ilia Hyperuricosuria Coxa vara Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Thoracolumbar kyphoscoliosis Enlargement of the ankles Relative macrocephaly Elbow flexion contracture Coxa valga Delayed skeletal maturation Flexion contracture Renal hypophosphatemia Brachydactyly Macrocephaly Short neck Kyphosis Midface retrusion Joint laxity Sparse bone trabeculae Hyperlordosis Hypodontia Macroglossia Nail dysplasia Limb undergrowth Lumbar hyperlordosis Small nail Hypoplasia of the femoral head Hypoplastic iliac body Tubulointerstitial fibrosis Glycosuria Chronic kidney disease Hypercalciuria Glomerulosclerosis Rickets Focal segmental glomerulosclerosis Bowing of the legs Hypophosphatemia Osteomalacia Enlargement of the wrists Microscopic hematuria Delayed epiphyseal ossification Tubular atrophy Enlarged epiphyses Abnormality of the lower limb Renal phosphate wasting Hyperphosphaturia Thin bony cortex Nephrocalcinosis Aminoaciduria Cervical spine instability Difficulty walking Muscular hypotonia Pain Intellectual disability, mild Bulging epiphyses Renal insufficiency Elevated serum creatine phosphokinase Abdominal pain Proteinuria Bone pain Laryngeal cleft Low-molecular-weight proteinuria Abnormality of the kidney Stage 5 chronic kidney disease Hematuria Recurrent fractures Aciduria Nephrolithiasis Hyperechogenic pancreas Genu varum Subglottic stenosis Micrognathia Hyperextensible skin Epiphyseal dysplasia Flared metaphysis Carpal synostosis Long upper lip Advanced ossification of carpal bones Craniofacial disproportion Spasticity Decreased body weight Intrauterine growth retardation Cardiomyopathy Absent speech Pneumonia Cerebellar hypoplasia Agenesis of corpus callosum Small hand Cutis laxa Blue sclerae Round face Delayed speech and language development Immunodeficiency Hypercalcemia Mesomelia Metaphyseal chondrodysplasia Tremor Dystonia Myoclonus Motor delay Flat face Dysphagia Cleft palate Talipes equinovarus Prominent forehead Proptosis Osteopenia Hip dislocation Platyspondyly Short foot Prominent nose Normocytic anemia Neoplasm Feeding difficulties Diarrhea Thrombocytopenia Constipation Respiratory tract infection Neutropenia Severe muscular hypotonia Laryngomalacia Low-set ears Metaphyseal widening Neurodevelopmental delay Steatorrhea Exocrine pancreatic insufficiency Severe failure to thrive Prolonged partial thromboplastin time Prolonged prothrombin time Anemia Failure to thrive Sloping forehead Camptodactyly of finger Cortical gyral simplification Partial agenesis of the corpus callosum Restrictive cardiomyopathy Metaphyseal sclerosis Hearing impairment Sensorineural hearing impairment Camptodactyly Arachnodactyly Broad femoral metaphyses Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Tall stature Joint contracture of the hand Ectopia lentis Camptodactyly of toe Osteochondroma Abnormality of lower limb joint Non-acidotic proximal tubulopathy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Visual loss, related diseases and genetic alterations Tremor and Heterotopia, related diseases and genetic alterations Hypertension and Short metacarpal, related diseases and genetic alterations Hypertension and High myopia, related diseases and genetic alterations Anemia and Vomiting, related diseases and genetic alterations Generalized hypotonia and Lower limb muscle weakness, related diseases and genetic alterations