Peripheral neuropathy, and Platyspondyly

Diseases related with Peripheral neuropathy and Platyspondyly

In the following list you will find some of the most common rare diseases related to Peripheral neuropathy and Platyspondyly that can help you solving undiagnosed cases.


Top matches:

Low match METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Low match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

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Other less relevant matches:

Low match SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1


SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Low match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Low match DYSOSTEOSCLEROSIS


Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DYSOSTEOSCLEROSIS

Low match SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3


Related symptoms:

  • Scoliosis
  • Camptodactyly
  • Arachnodactyly
  • Abnormal vertebral morphology
  • Vertebral segmentation defect


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3

Low match ACROMICRIC DYSPLASIA


Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Brachydactyly
  • Anteverted nares


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACROMICRIC DYSPLASIA

Low match SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE


Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Is also known as sed, maroteaux type|brachyolmia, maroteaux type|pseudo-morquio syndrome type 2|pseudo-morquio syndrome, type 2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Intellectual disability, mild
  • Pectus excavatum
  • Clinodactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

Low match 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 ). 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

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Platyspondyly

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Severe short stature Common - Between 50% and 80% cases
Skeletal dysplasia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Platyspondyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the metaphysis Growth delay Abnormality of epiphysis morphology Midface retrusion Hearing impairment Cataract Brachydactyly Hypoplasia of the odontoid process Abnormal joint morphology Abnormality of the skeletal system Narrow mouth Global developmental delay Delayed skeletal maturation Disproportionate short stature Respiratory distress Constrictive median neuropathy Camptodactyly Recurrent fractures Lumbar hyperlordosis Hypertelorism Respiratory tract infection Pain Hypertension Malar flattening Narrow palpebral fissure Osteopenia Short neck Osteoarthritis Joint stiffness Cleft palate Flexion contracture Short long bone Limb undergrowth Short palm Abnormal facial shape Micromelia Kyphosis Microcephaly Narrow chest

Rare Symptoms - Less than 30% cases


Flat face Round face Limitation of joint mobility Waddling gait Metaphyseal widening Genu valgum Hyperlordosis Pectus carinatum Metaphyseal irregularity Flared metaphysis Apnea Arthritis Irregular vertebral endplates Broad ribs Small epiphyses Abnormal lung morphology Sleep apnea Abnormal vertebral morphology Ovoid vertebral bodies Low-set ears Ptosis Intellectual disability, mild Inguinal hernia Increased susceptibility to fractures Cervical myelopathy Thin ribs Myelopathy Micrognathia Rhizomelia Thickened skin Short foot Blepharophimosis Bowing of the legs Spondyloepiphyseal dysplasia Genu varum Short metacarpal Coxa vara Cone-shaped epiphysis EMG abnormality Talipes equinovarus Epiphyseal dysplasia Cervical instability Rough bone trabeculation Generalized muscle hypertrophy Enlarged joints Gait disturbance Autism Short finger Seizures Short ribs Short diaphyses Abnormal form of the vertebral bodies Abnormality of the ribs Macrocephaly Kyphoscoliosis Ventricular septal defect Respiratory failure Prominent forehead Clinodactyly Respiratory insufficiency Flared femoral metaphysis Craniofacial hyperostosis Generalized hypotonia Myopia Nystagmus Sensorineural hearing impairment Muscle weakness Skeletal muscle hypertrophy Recurrent respiratory infections Constipation Abnormal heart morphology Patent ductus arteriosus 2-3 toe syndactyly Blurred vision External genital hypoplasia Pericardial effusion Thin vermilion border Vertebral fusion High hypermetropia Hypogonadism Thick eyebrow Restrictive cardiomyopathy Obesity Tracheal stenosis Hypoplastic iliac wing Chronic constipation Oligomenorrhea Submucous cleft hard palate Thickened calvaria Wheezing Pericarditis Arthropathy Keratoconus Hypospadias Hypoplasia of the maxilla Progressive cerebellar ataxia Prominent nasal bridge Overlapping toe Aortic valve stenosis Cough Small for gestational age Microtia Short palpebral fissure Abnormal cardiac septum morphology Scarring Hypermetropia Sparse hair Autistic behavior Postnatal growth retardation Choanal atresia Cleft lip Conductive hearing impairment Short toe Deeply set eye Short philtrum Stridor Bifid uvula Radial deviation of finger Amenorrhea Oral cleft Specific learning disability Oral-pharyngeal dysphagia Hyperactivity Astigmatism Abnormality of the cardiovascular system Mandibular prognathia Precocious puberty Thin upper lip vermilion Coarctation of aorta Fine hair Abnormality of the voice Oligodontia Peptic ulcer Sclerosis of hand bone Short nose Anteverted nares Supernumerary vertebral ossification centers Slender finger Vertebral segmentation defect Arachnodactyly Progressive bowing of long bones Increased intervertebral space Sclerotic scapulae Bulbous nose Abnormal metaphyseal trabeculation Clavicular sclerosis Absent paranasal sinuses Optic nerve compression Cranial nerve compression Parietal bossing Delayed eruption of primary teeth Absent frontal sinuses Long philtrum Thick vermilion border Abducens palsy Pectus excavatum Schizencephaly Vertebral compression fractures Hypoplasia of the pons Arnold-Chiari malformation Blue sclerae Cerebellar hypoplasia Small nail Wide intermamillary distance Internal notch of the femoral head Small hand Fifth metacarpal with ulnar notch Abnormality of femur morphology Abnormal eyebrow morphology Decreased nerve conduction velocity Deep philtrum Hoarse voice Short phalanx of finger Long eyelashes Thick lower lip vermilion Hypoplastic vertebral bodies Vertebral hypoplasia Femoral hernia Constrictive pericarditis Frontal bossing Optic atrophy High palate Hypoplasia of eyelid Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis Abnormality of the pubic bone Pear-shaped nose Abnormality of the dentition Large iliac wings Esophageal stenosis Pseudopapilledema Stiff skin Abnormality of the penis Abnormal lip morphology Unilateral cleft lip Abnormality of the menstrual cycle Epispadias Blindness Developmental regression Sclerosis of skull base Obstructive sleep apnea Narrow iliac wings Diaphyseal thickening Broad femoral neck Short sternum Delayed closure of the anterior fontanelle Facial paralysis Osteopetrosis Abnormal cranial nerve morphology Premature loss of teeth Delayed eruption of teeth Proportionate short stature Natal tooth Macular atrophy Aplasia/Hypoplasia of the skin Dermal atrophy Recurrent infections Abnormality of dental enamel Increased bone mineral density Cerebral calcification Abnormality of cardiovascular system morphology Talipes Microphthalmia Vestibular dysfunction Flattened epiphysis Limited elbow movement Barrel-shaped chest Vitreoretinopathy Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Back pain Retinoschisis Growth abnormality High myopia Retinal detachment Pulmonary hypoplasia Retinal degeneration Paresthesia Hip dislocation Limited hip movement Delayed pubic bone ossification Autoimmunity Sensory neuropathy Scaling skin Hyperinsulinemia Disproportionate short-limb short stature Hypogonadotrophic hypogonadism Type II diabetes mellitus Bilateral sensorineural hearing impairment Growth hormone deficiency Short distal phalanx of finger Sciatica Joint hyperflexibility Delayed puberty Joint laxity Arthralgia Alopecia Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Broad forehead Glaucoma Limited elbow extension Interphalangeal joint contracture of finger Spondylometaphyseal dysplasia Flared iliac wings Abnormal cortical bone morphology Fetal akinesia sequence Aplasia/Hypoplasia of the lungs Multiple joint contractures Akinesia Peripheral axonal neuropathy Long thorax Confusion Arthrogryposis multiplex congenita Camptodactyly of finger Low-set, posteriorly rotated ears High forehead Clinodactyly of the 5th finger Hydrocephalus Depressed nasal bridge Thoracic kyphoscoliosis Abnormality of the intervertebral disk Polydactyly Long coccyx Hernia Congestive heart failure Muscular hypotonia Absent primary metaphyseal spongiosa Hyperplasia of the femoral trochanters Halberd-shaped pelvis Dumbbell-shaped metaphyses Abnormal metaphyseal vascular invasion Caudal appendage Relatively short spine Snail-like ilia Flared humeral metaphysis Hypoplastic cervical vertebrae Anisospondyly Abnormal enchondral ossification Severe platyspondyly Pseudoarthrosis Rickets Abnormality of the hip bone Syndactyly Overfolded helix Hypoplasia of the musculature Coronal cleft vertebrae Blepharospasm Malignant hyperthermia Hip contracture High pitched voice Myotonia Coxa valga Weak voice Generalized hirsutism Congenital hip dislocation Abnormal autonomic nervous system physiology Elbow flexion contracture Joint contracture of the hand Bowing of the long bones Decreased testicular size Wrist flexion contracture Spinal deformities Microcornea Ataxia Behavioral abnormality Cerebellar atrophy Cardiomyopathy Intrauterine growth retardation Motor delay Cryptorchidism Strabismus Anterior bowing of long bones Flexion contracture of toe Long eyelashes in irregular rows Abnormality of femoral epiphysis Smooth tongue Shoulder flexion contracture Pursed lips Percussion myotonia Talipes valgus Temperature instability Full cheeks Rigidity Metaphyseal dysplasia Irregular epiphyses Ulnar deviation of the wrist Atlantoaxial dislocation Decreased testosterone in males Hamartomatous polyposis Carpal bone hypoplasia Ulnar deviation of the hand Decreased serum estradiol Decreased serum testosterone level Cervical cord compression Intestinal polyposis Multiple epiphyseal dysplasia Beaking of vertebral bodies Delayed epiphyseal ossification Genu recurvatum Upper limb undergrowth Insulin-resistant diabetes mellitus Spinal canal stenosis Premature osteoarthritis Irregular carpal bones Pes planus Skeletal muscle atrophy Umbilical hernia Proptosis Osteoporosis Hyperhidrosis Hyporeflexia Myopathy Dysphagia Fever Limited hip extension Small epiphyses of the phalanges of the hand Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Lumbar spinal canal stenosis Childhood onset short-limb short stature Cerebellar agenesis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Carious teeth, related diseases and genetic alterations Downslanted palpebral fissures and Camptodactyly, related diseases and genetic alterations Macrocephaly and Sensory neuropathy, related diseases and genetic alterations Flexion contracture and Weight loss, related diseases and genetic alterations

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