Global developmental delay, and Lumbar hyperlordosis

Diseases related with Global developmental delay and Lumbar hyperlordosis

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

Top matches:

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P Is also known as muscular dystrophy, limb-girdle, type 2p|muscular dystrophy, limb-girdle, autosomal recessive 16|muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related|lgmdr16|lgmd2p

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Flexion contracture
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P

High match MASA SYNDROME

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Other less relevant matches:

High match STEEL SYNDROME

Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about STEEL SYNDROME

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

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYGGVE-MELCHIOR-CLAUSEN DISEASE

High match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

Top 5 symptoms//phenotypes associated to Global developmental delay and Lumbar hyperlordosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hyperlordosis Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Delayed speech and language development Short neck Kyphoscoliosis Talipes equinovarus Macrocephaly Hypertelorism Abnormal facial shape Mandibular prognathia Difficulty walking Coxa vara Intellectual disability, mild Hip dislocation Microcephaly Generalized hypotonia Clinodactyly of the 5th finger Seizures Midface retrusion Hearing impairment

Rare Symptoms - Less than 30% cases

Bilateral talipes equinovarus Hypoplasia of the odontoid process Shallow acetabular fossae Congenital hip dislocation High palate Talipes Rhizomelia Deeply set eye Genu valgum Finger syndactyly Pes planus Prominent forehead Syndactyly Brachydactyly Elbow flexion contracture Triangular face Hypoplastic ilia Thoracic kyphosis Hypoplastic iliac body Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Myopia Disproportionate short stature Spondyloepimetaphyseal dysplasia Ovoid vertebral bodies Skeletal dysplasia Thoracolumbar scoliosis Short femoral neck Metaphyseal irregularity Platyspondyly Ataxia Hypodontia Joint laxity Metaphyseal dysplasia Abnormality of the foot Sensorineural hearing impairment Interphalangeal joint contracture of finger Unsteady gait Waddling gait Strabismus Cognitive impairment Ventriculomegaly Hydrocephalus Abnormality of the nervous system Camptodactyly of finger Spastic paraplegia Paraplegia Spasticity Down-sloping shoulders Distal arthrogryposis Sloping forehead Joint stiffness Attention deficit hyperactivity disorder Pectus carinatum Neurological speech impairment Atlantoaxial dislocation J-shaped sella turcica Micromelia Small epiphyses Short metacarpal Abnormality of the metaphysis Broad phalanx Abnormality of epiphysis morphology Hallux valgus Short thorax Abnormality of the hip bone Short phalanx of finger Thickened calvaria Dandy-Walker malformation Short finger Spinal canal stenosis Flared metaphysis Postnatal growth retardation Autism Coarse facial features Fasciculations Cervical cord compression Inability to walk Retinal dystrophy Downturned corners of mouth Generalized myoclonic seizures Delayed myelination Urinary incontinence Tetraparesis Broad-based gait Lower limb spasticity Progressive spastic paraplegia Metaphyseal widening Overweight Cerebral white matter atrophy Puberty and gonadal disorders Structural foot deformity Exophoria Delayed peripheral myelination Abnormality of the musculature of the lower limbs Absent pubertal growth spurt Focal myoclonic seizures Brachycephaly Rocker bottom foot Cone-shaped epiphyses of the phalanges of the hand Bifid uvula Neoplasm Micrognathia Cleft palate Cutaneous finger syndactyly Cryptorchidism Ptosis Submucous cleft hard palate Epicanthus Pectus excavatum Generalized tonic-clonic seizures Protruding ear Decreased muscle mass Retinopathy Arthrogryposis multiplex congenita Camptodactyly of toe Ophthalmoplegia Ulnar deviation of the hand or of fingers of the hand Facial asymmetry Decreased hip abduction Abnormality of the rib cage Abnormality of skin pigmentation Single transverse palmar crease Limitation of joint mobility Anemia Barrel-shaped chest Webbed neck Abnormality of the wrist Aortic valve stenosis Short toe Hypoplastic pelvis Knee flexion contracture Abnormal vertebral morphology Disproportionate short-trunk short stature Pterygium Hypotelorism Tetraplegia Overlapping toe Abnormality of the ilium Avascular necrosis of the capital femoral epiphysis Carpal bone hypoplasia Hypoplastic ischia Prominent sternum Hypotrichosis Shoulder dislocation Hypoplastic sacrum Distal ulnar hypoplasia Irregular iliac crest Respiratory insufficiency Camptodactyly Gait ataxia Developmental regression Mild short stature Severe hydrocephalus Pain Wide nasal bridge Anteverted nares Clinodactyly Broad forehead Thin vermilion border Hip dysplasia Bilateral sensorineural hearing impairment Finger clinodactyly Limited elbow extension Aqueductal stenosis Dislocated radial head Thoracic scoliosis Synostosis of carpal bones Lower limb asymmetry Acetabular dysplasia Dislocation of the femoral head Growth delay Delayed skeletal maturation Severe short stature Sparse hair Hand clenching Shuffling gait Nail dysplasia Tonsillitis Muscle weakness Motor delay Intellectual disability, severe Elevated serum creatine phosphokinase Muscular dystrophy Limb-girdle muscular dystrophy Gowers sign Ankle contracture Limb-girdle muscle weakness Hypoglycosylation of alpha-dystroglycan Hyperreflexia Hyperactive deep tendon reflexes Gait disturbance Babinski sign Agenesis of corpus callosum Pes cavus Muscle stiffness Paraparesis Spastic paraparesis Adducted thumb Hemiplegia/hemiparesis Aphasia Progressive spasticity Macroglossia Limb undergrowth Muscular hypotonia of the trunk Slender build Overgrowth High myopia Tall stature Sparse eyebrow Large hands Disproportionate tall stature Long fingers Megalencephaly Long foot Communicating hydrocephalus Metopic synostosis Long face Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Muscular hypotonia Dysarthria Abnormality of the skeletal system Hypoplasia of the corpus callosum Dystonia Cerebral atrophy Obesity Abnormal cerebellum morphology Arachnodactyly Small nail Low-set ears Coxa valga Relative macrocephaly Cubitus valgus Cone-shaped epiphysis Broad ribs Shield chest Thoracolumbar kyphoscoliosis Increased vertebral height Hypoplasia of the femoral head Cervical spine instability Downslanted palpebral fissures Prominent nasal bridge Frontal bossing Cerebellar atrophy Malar flattening Absent speech Cerebellar hypoplasia Posteriorly rotated ears Upslanted palpebral fissure Cerebral cortical atrophy Proptosis Macrotia High forehead Cervical subluxation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Prominent forehead, related diseases and genetic alterations Rod-cone dystrophy and Eczema, related diseases and genetic alterations Ventricular septal defect and Upslanted palpebral fissure, related diseases and genetic alterations Feeding difficulties and Coronary artery atherosclerosis, related diseases and genetic alterations Strabismus and Triangular face, related diseases and genetic alterations Microcephaly and Clinodactyly of the 5th finger, related diseases and genetic alterations