Global developmental delay, and Recurrent fractures

Diseases related with Global developmental delay and Recurrent fractures

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

Top matches:

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Is also known as oi, type xv

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.

OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8 Is also known as oi, type viii

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Kyphosis
  • Inguinal hernia


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2

Other less relevant matches:

Medium match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

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

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.

OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS Is also known as mixed rta|mixed renal tubular acidosis|renal tubular acidosis type 3|rta, bicarbonate-wasting type|rta, dislocation type|guibaud-vainsel syndrome|carbonic anhydrase 2 deficiency|marble brain disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|ops

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Top 5 symptoms//phenotypes associated to Global developmental delay and Recurrent fractures

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Blue sclerae Joint laxity Peripheral neuropathy Muscular hypotonia Hypertelorism Multiple prenatal fractures Muscle weakness Osteopenia Osteoporosis Joint hypermobility Dysphagia Vertebral compression fractures Thin ribs Increased susceptibility to fractures Platyspondyly

Rare Symptoms - Less than 30% cases

Neonatal respiratory distress Epicanthus Spinal muscular atrophy Increased variability in muscle fiber diameter Patent foramen ovale Severe muscular hypotonia Axonal loss Fractures of the long bones Decreased fetal movement Premature birth High palate Bone pain Wide nasal bridge Thin bony cortex Mandibular prognathia Visual impairment Failure to thrive Pathologic fracture Bowing of the long bones Broad forehead Micrognathia Osteomalacia Intrauterine growth retardation Rickets Peripheral axonal neuropathy Nephrolithiasis Intellectual disability, mild Cataract Microretrognathia Downslanted palpebral fissures Pulmonary hypoplasia Nephrocalcinosis Arthrogryposis multiplex congenita Wormian bones Triangular face Femoral bowing Round face Inguinal hernia Barrel-shaped chest Growth delay Flexion contracture Skeletal muscle atrophy Respiratory distress Patent ductus arteriosus Areflexia Respiratory failure Cerebral calcification Abnormality of dental morphology Abnormality of epiphysis morphology Dental malocclusion Reduced bone mineral density Hypokalemia Periodic paralysis Aseptic necrosis Osteopetrosis Abnormality of the renal tubule Carious teeth Bicarbonate-wasting renal tubular acidosis Ventricular septal defect Blindness Genu valgum Autism Cerebellar hypoplasia Hypoplasia of the pons Pneumonia Umbilical hernia Arachnodactyly Cerebellar agenesis Schizencephaly Long eyelashes Disproportionate tall stature Long palpebral fissure Thrombocytopenia Generalized osteoporosis Biconcave vertebral bodies Arnold-Chiari malformation Anemia Glaucoma Hepatomegaly Optic atrophy Splenomegaly Microphthalmia Vitreoretinopathy Kyphoscoliosis Hypotelorism Gastroesophageal reflux Deeply set eye Postnatal growth retardation Protruding ear Hip dislocation Bulbous nose Hypoplasia of the maxilla Large fontanelles Prominent forehead Congenital hip dislocation Cutis laxa Growth abnormality Redundant skin Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Brachycephaly Agenesis of corpus callosum Corneal opacity Iris atrophy Congenital cataract Inability to walk Metaphyseal widening Abnormality of the dentition Retinal dysplasia Glioma Vitreous hemorrhage Retinoblastoma Phthisis bulbi Midface retrusion Severe platyspondyly Absent anterior chamber of the eye Abnormal facial shape Frontal bossing Abnormality of the skeletal system Ventriculomegaly Hydrocephalus Malar flattening Hernia Hyperuricosuria Motor delay Hypohidrosis Abnormality of bone mineral density Cat cry Cardiomyopathy Congestive heart failure Narrow mouth Abnormal cardiac septum morphology Oligohydramnios Congenital contracture Abnormality of the voice Generalized amyotrophy Secundum atrial septal defect Muscle fiber atrophy Diaphragmatic eventration Pain Cognitive impairment Wide anterior fontanel High pitched voice Disproportionate short-limb short stature Elevated serum creatine phosphokinase Tibial bowing Respiratory insufficiency Type 1 collagen overmodification Abnormal cortical gyration Externally rotated/abducted legs Decreased skull ossification Radial bowing Slender long bone Delayed cranial suture closure Preauricular skin tag Short neck Intellectual disability, severe Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Finger syndactyly Severe global developmental delay Joint hyperflexibility Small hand Renal insufficiency Abdominal pain Delayed speech and language development Low-molecular-weight proteinuria Abnormality of the lower limb Hyperphosphaturia Proximal tubulopathy Tubulointerstitial fibrosis Renal phosphate wasting Enlarged epiphyses Enlargement of the wrists Bulging epiphyses Mild global developmental delay Sparse bone trabeculae Enlargement of the ankles Polyhydramnios Increased serum 1,25-dihydroxyvitamin D3 Renal hypophosphatemia Non-acidotic proximal tubulopathy Kyphosis Tubular atrophy Delayed epiphyseal ossification Difficulty walking Chronic kidney disease Proteinuria Abnormality of the kidney Stage 5 chronic kidney disease Hematuria Aciduria Short metacarpal Aminoaciduria Hypercalciuria Microscopic hematuria Glomerulosclerosis Narrow chest Metaphyseal irregularity Focal segmental glomerulosclerosis Bowing of the legs Hypophosphatemia Glycosuria Proptosis Abnormal glycosylation


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