Global developmental delay, and Skeletal dysplasia

Diseases related with Global developmental delay and Skeletal dysplasia

In the following list you will find some of the most common rare diseases related to Global developmental delay and Skeletal dysplasia 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

Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.

REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as regressive spondylometaphyseal dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA

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

Other less relevant matches:

Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

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

Medium match ANAUXETIC DYSPLASIA

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

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Medium match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Top 5 symptoms//phenotypes associated to Global developmental delay and Skeletal dysplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Prominent forehead Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Rhizomelia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Flexion contracture Macrocephaly Metaphyseal dysplasia Generalized hypotonia Intellectual disability Delayed skeletal maturation Frontal bossing Platyspondyly Hyperlordosis Kyphosis Brachydactyly Scoliosis

Rare Symptoms - Less than 30% cases

Epiphyseal dysplasia Craniosynostosis Myopia Sensorineural hearing impairment Cardiomegaly Hearing impairment Nyctalopia Feeding difficulties Respiratory tract infection Metaphyseal irregularity Rod-cone dystrophy Short long bone Micromelia Abnormal facial shape Postnatal growth retardation Limb undergrowth Depressed nasal bridge Metaphyseal cupping Congestive heart failure Short nose Blindness Small nail Mild short stature Sparse hair Ventricular septal defect Abnormality of the skeletal system Ovoid vertebral bodies Spondylometaphyseal dysplasia Microcephaly Metaphyseal chondrodysplasia Spondyloepimetaphyseal dysplasia Cleft palate Kyphoscoliosis Hypercalcemia Congenital cataract Downslanted palpebral fissures Squared iliac bones Severe platyspondyly Short 5th metacarpal Dysplastic sacrum Iliac crest serration Micrognathia Delayed speech and language development Distal lower limb amyotrophy Calcific stippling Hammertoe Malar flattening Anosmia Macrotia Intellectual disability, moderate Sensorimotor neuropathy Mesomelia Hypoplastic ischia Delayed epiphyseal ossification Short distal phalanx of finger Round face Muscular hypotonia of the trunk Camptodactyly Microtia Small for gestational age Narrow chest Polydactyly Wide nose Pulmonary arterial hypertension Bell-shaped thorax Large fontanelles Wide anterior fontanel Short ribs Wormian bones Tachypnea Polyneuritis Deep philtrum Hypokinesia Retinal degeneration Renal cyst Retinopathy Cataract Bilateral cryptorchidism Adrenal insufficiency Primary adrenal insufficiency Adrenal hypoplasia Congenital adrenal hypoplasia Seizures Ataxia Cognitive impairment Nephrocalcinosis Peripheral neuropathy Cardiomyopathy Ichthyosis Visual loss Arrhythmia Pes cavus Autism Autistic behavior Hypercalciuria Polyneuropathy Short metacarpal Cryptorchidism Underdeveloped nasal alae Progressive visual loss Horseshoe kidney Congenital blindness Postaxial polydactyly Immunodeficiency Muscular hypotonia Intrauterine growth retardation Hypocalcemia Hypospadias Hypogonadism Micropenis Hydronephrosis Muscular dystrophy Growth hormone deficiency Bilateral sensorineural hearing impairment Abnormality of the genital system Dilatation Cutis laxa Knee flexion contracture High palate Flared iliac wings Abnormality of the rib cage Flat capital femoral epiphysis Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Osteopenia Failure to thrive Anemia Proptosis Spondyloepiphyseal dysplasia Diarrhea Thrombocytopenia Constipation Pectus excavatum Neutropenia High myopia Severe muscular hypotonia Genu varum Dysostosis multiplex Abnormality of the hand Metaphyseal widening Flat face Decreased body weight Flared metaphysis Carpal synostosis Long upper lip Advanced ossification of carpal bones Craniofacial disproportion Blue sclerae Pain Hip dislocation Aortic regurgitation Intellectual disability, mild Arthralgia Coarse facial features Pes planus Joint stiffness Pectus carinatum Genu valgum Aortic valve stenosis Opacification of the corneal stroma Laryngomalacia Talipes equinovarus Respiratory insufficiency Delayed ossification of carpal bones Relative macrocephaly Cubitus valgus Cone-shaped epiphysis Short femoral neck Thoracolumbar scoliosis Broad ribs Hypoplastic ilia Shield chest Hypoplasia of the capital femoral epiphysis Coxa valga Thoracolumbar kyphoscoliosis Increased vertebral height Hypoplasia of the femoral head Hypoplastic iliac body Cervical spine instability Limited elbow extension Hypertension Hyperextensible skin Anteverted nares Coxa vara Elbow flexion contracture Neurodevelopmental delay Laryngeal cleft Steatorrhea Exocrine pancreatic insufficiency Severe failure to thrive Mild global developmental delay Prolonged partial thromboplastin time Prolonged prothrombin time Normocytic anemia Subglottic stenosis Hyperechogenic pancreas Neoplasm Hyposegmentation of neutrophil nuclei Thoracolumbar kyphosis Midface retrusion Severe short stature Joint laxity Hypodontia Macroglossia Nail dysplasia Lumbar hyperlordosis Elevated levels of phytanic acid


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ptosis and Hypospadias, related diseases and genetic alterations Cataract and Atrial septal defect, related diseases and genetic alterations Ataxia and Hip dislocation, related diseases and genetic alterations Generalized hypotonia and Visual impairment, related diseases and genetic alterations Short stature and Mitral valve prolapse, related diseases and genetic alterations Carcinoma and Hypopigmentation of the skin, related diseases and genetic alterations