Peripheral neuropathy, and Camptodactyly

Diseases related with Peripheral neuropathy and Camptodactyly

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


Top matches:

Low match FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A


Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (OMIM ). CFEOM2 (OMIM ) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008).Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (OMIM ), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (OMIM ), which maps to chromosome 13q.

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A Is also known as feom3 locus

Related symptoms:

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: OMIM MESH MENDELIAN

More info about FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

Low match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Low match SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1


Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

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Other less relevant matches:

Low match BLAU SYNDROME; BLAUS


Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Low match CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

Low match POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME


Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.

POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME Is also known as pcarp|autosomal recessive posterior column ataxia and retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME

Low match DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME


Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME Is also known as heimler syndrome|hearing loss, sensorineural, with enamel hypoplasia and nail defects|pbd1c|peroxisome biogenesis disorder 1c

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

Low match STÜVE-WIEDEMANN SYNDROME


Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

STÜVE-WIEDEMANN SYNDROME Is also known as neonatal schwartz-jampel syndrome|stÜve-wiedemann dysplasia|sjs2|schwartz-jampel syndrome type 2

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about STÜVE-WIEDEMANN SYNDROME

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 COFS SYNDROME


Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

COFS SYNDROME Is also known as cerebrooculofacioskeletal syndrome|pena-shokeir syndrome type 2

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about COFS SYNDROME

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

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Camptodactyly of finger Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cataract Peripheral axonal neuropathy Talipes equinovarus Hearing impairment Sensory neuropathy Respiratory insufficiency Visual impairment Abnormality of the foot Intrauterine growth retardation Joint contracture of the hand Arthrogryposis multiplex congenita Distal muscle weakness Feeding difficulties Muscular hypotonia Feeding difficulties in infancy Hyperhidrosis Generalized hypotonia

Rare Symptoms - Less than 30% cases


Axonal degeneration Skeletal dysplasia Abnormality of the dentition Hypogonadism Hyporeflexia Abnormal autonomic nervous system physiology Elbow flexion contracture Broad-based gait Cerebral calcification Round face Skeletal muscle atrophy Pain Apnea Joint stiffness Impaired proprioception Sensory ataxia Respiratory distress High palate Areflexia Sensorineural hearing impairment Abnormality of the metaphysis Urinary incontinence Facial palsy Micrognathia Abnormal cortical bone morphology Abnormality of movement Blindness Abnormal joint morphology Depressed nasal bridge Kyphosis Optic atrophy Seizures Intellectual disability Flexion contracture of finger Trismus Micromelia Ataxia Failure to thrive Motor delay Respiratory failure Wide nasal bridge Kyphoscoliosis Pili torti High anterior hairline Thin eyebrow Global developmental delay Leukonychia Abnormality of the eye Oligohydramnios Limitation of joint mobility Asthma Recurrent fractures Paresthesia Genu valgum Abnormal eyelid morphology Abnormal hair quantity Osteopenia Hypothyroidism Osteoporosis Abnormality of nail color Muscle flaccidity Abnormal nasolacrimal system morphology Abnormal toenail morphology Primary amenorrhea Taurodontia Abnormality of peripheral nerves Undetectable electroretinogram Achalasia Acanthocytosis Bone spicule pigmentation of the retina Gastrointestinal dysmotility Decreased number of large peripheral myelinated nerve fibers Chronic pain Titubation Positive Romberg sign Decreased sensory nerve conduction velocity Abnormality of the spinal cord Truncal titubation Ring scotoma Abnormal sensory nerve conduction velocity Abnormal eyebrow morphology Arrhythmia Delayed skeletal maturation Diabetes mellitus Ichthyosis Bilateral sensorineural hearing impairment Hypohidrosis Hypoplasia of dental enamel Abnormality of dental enamel Abnormality of the fingernails Acanthosis nigricans Large hands Macular dystrophy External genital hypoplasia Amelogenesis imperfecta Bowing of the long bones Severe short stature Knee flexion contracture Anisospondyly Relatively short spine Snail-like ilia Flared humeral metaphysis Short diaphyses Hypoplastic cervical vertebrae Flared femoral metaphysis Abnormal enchondral ossification Long coccyx Cervical instability Severe platyspondyly Pseudoarthrosis Caudal appendage Abnormality of the intervertebral disk Long thorax Thoracic kyphoscoliosis Abnormal metaphyseal vascular invasion Dumbbell-shaped metaphyses Spondylometaphyseal dysplasia Talipes Prominent metopic ridge Abnormality of immune system physiology Aplasia/Hypoplasia of the cerebellum Reduced tendon reflexes Abnormality of retinal pigmentation Cutaneous photosensitivity Everted lower lip vermilion Severe global developmental delay Halberd-shaped pelvis Cerebral cortical atrophy Microphthalmia Hypertonia Short neck Microcephaly Absent primary metaphyseal spongiosa Hyperplasia of the femoral trochanters Rough bone trabeculation Enlarged joints Sacral dimple Smooth tongue Clinodactyly of the 5th finger Midface retrusion Hydrocephalus Brachydactyly Cleft palate Absent patellar reflexes Decreased corneal reflex Prominent forehead Ectopic thyroid Thickened cortex of long bones Lacrimation abnormality Episodic fever Impaired pain sensation Metaphyseal widening Abnormality of vision Scotoma High forehead Flared iliac wings Short ribs Fetal akinesia sequence Aplasia/Hypoplasia of the lungs Hypoplasia of the odontoid process Short finger Multiple joint contractures Akinesia Epiphyseal dysplasia Abnormal form of the vertebral bodies Low-set, posteriorly rotated ears Osteoarthritis Interphalangeal joint contracture of finger Abnormality of the ribs Limb undergrowth Confusion Narrow chest Platyspondyly Impaired vibration sensation in the lower limbs Scaling skin Bowel incontinence Small for gestational age Progressive muscle weakness Decreased fetal movement Premature birth Distal amyotrophy Lower limb muscle weakness Limb muscle weakness Paralysis Tachypnea Constipation Growth delay Impaired tactile sensation Distal arthrogryposis Delayed ability to walk Narrow nasal bridge Severe muscular hypotonia Decreased nerve conduction velocity Myopathic facies Inspiratory stridor Hypertension Denervation of the diaphragm Ventilator dependence with inability to wean Peripheral axonal degeneration Nocturnal hypoventilation Diaphragmatic weakness Diaphragmatic paralysis Spinal muscular atrophy Diaphragmatic eventration Degeneration of anterior horn cells EMG: neuropathic changes Recurrent lower respiratory tract infections Hypoventilation Weak cry Long nose Sensory axonal neuropathy Edema Exotropia Restrictive external ophthalmoplegia Congenital fibrosis of extraocular muscles Corneal scarring Wrist flexion contracture External ophthalmoplegia Situs inversus totalis Amblyopia Superior rectus atrophy Specific learning disability Esotropia Ophthalmoplegia Scarring Agenesis of corpus callosum Ptosis Compensatory chin elevation Levator palpebrae superioris atrophy Impaired vibratory sensation Arachnodactyly Poor head control Sandal gap Hip dysplasia Inability to walk Unsteady gait Dysmetria Thin upper lip vermilion Nonprogressive restrictive external ophthalmoplegia Difficulty walking Pes planus Abnormality of the skeletal system Dysarthria Cognitive impairment Sensory exotropia Fever Glaucoma Osteomyelitis Lumbar hyperlordosis 2-3 toe syndactyly Radial deviation of finger Cubitus valgus Strabismus Poor suck Sensorimotor neuropathy Full cheeks Limited elbow extension Carious teeth Protruding ear Hyperlordosis Carcinoma Clinodactyly Syndactyly Opisthotonus Renal cell carcinoma Anteverted nares Gait ataxia Delayed gross motor development Limb ataxia Recurrent urinary tract infections Pigmentary retinopathy Muscle cramps Nyctalopia Rod-cone dystrophy Thoracolumbar scoliosis Visual loss Intellectual disability, mild Gait disturbance Cold-induced sweating Unexplained fevers Excessive salivation Long philtrum Low-set ears Arthritis Vasculitis Uveitis Optic neuropathy Abnormality of the ear Increased antibody level in blood Rheumatoid arthritis Hypercalcemia Skin ulcer Abnormal cranial nerve morphology Subcutaneous nodule Inflammatory abnormality of the skin Eczema Papule Skin rash Autoimmunity Joint swelling Macular edema Nongranulomatous uveitis Posterior uveitis Intermittent generalized erythematous papular rash Tendonitis Panuveitis Large vessel vasculitis Iritis Iridocyclitis Anterior uveitis Juvenile rheumatoid arthritis Band keratopathy Granulomatosis Flexion contracture of toe Abducens palsy Cystoid macular edema Synovitis Abnormal nasal morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Single transverse palmar crease, related diseases and genetic alterations Rod-cone dystrophy and Retrognathia, related diseases and genetic alterations Hydrocephalus and Apnea, related diseases and genetic alterations Low-set ears and Alopecia, related diseases and genetic alterations Cognitive impairment and Short distal phalanx of finger, related diseases and genetic alterations Failure to thrive and Hydronephrosis, related diseases and genetic alterations

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