Pain, and Syndactyly

Diseases related with Pain and Syndactyly

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


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Gait disturbance
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3


Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3 Is also known as charcot-marie-tooth disease with focally folded myelin|cmt4b3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3

Low match MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION


Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.

MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION Is also known as syndactyly, malik-percin type|mssd|syndactyly, type ix|syndactyly type 9

Related symptoms:

  • Pain
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Finger syndactyly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION

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Other less relevant matches:

Low match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Low match AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE


PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney DiseaseAlso see polycystic kidney disease-2 (PKD2 ), caused by mutation in the PKD2 gene (OMIM ) on chromosome 4q22; PKD3 (OMIM ), caused by mutation in the GANAB gene (OMIM ) on chromosome 11q13; PKD4 (OMIM ), caused by mutation in the PKHD1 gene (OMIM ) on chromosome 6p12; PKD5 (OMIM ), caused by mutation in the DZIP1L gene (OMIM ) on chromosome 3q22; and PKD6 (OMIM ), caused by mutation in the DNAJB11 gene (OMIM ) on chromosome 3q27.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Is also known as apkd1|adpkd|polycystic kidney disease, adult|polycystic kidney disease, adult, type i|potter type iii polycystic kidney disease, formerly

Related symptoms:

  • Scoliosis
  • Pain
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Low 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

Low match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

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 BUSCHKE-OLLENDORFF SYNDROME


Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Low match SIALURIA


Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Top 5 symptoms//phenotypes associated to Pain and Syndactyly

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Clinodactyly Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
2-3 toe syndactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Chronic pain Finger syndactyly Hypertelorism Hypertension Renal insufficiency Pes planus Short stature Finger clinodactyly Intellectual disability Global developmental delay Low-set ears Hoarse voice

Rare Symptoms - Less than 30% cases


Hyperlordosis Recurrent fractures Myalgia Synostosis of carpal bones Skeletal muscle atrophy Peripheral neuropathy Epicanthus Depressed nasal bridge Muscle weakness Dilatation Abdominal pain Aortic regurgitation High palate Cutaneous finger syndactyly Talipes equinovarus High, narrow palate Cholelithiasis Limited elbow extension Hearing impairment Lumbar hyperlordosis Wide nasal bridge Anteverted nares Long philtrum Prominent forehead Cutaneous syndactyly Hyperhidrosis Facial palsy Toe syndactyly Strabismus Cognitive impairment Sensory impairment Clinodactyly of the 5th finger Gait disturbance Short palm Carcinoma Micrognathia Protuberant abdomen Feeding difficulties Hypoplastic nipples Thoracic hypoplasia Poor suck Abnormal autonomic nervous system physiology Hyperkinesis Kyphoscoliosis Sleep apnea Generalized hirsutism Sensorimotor neuropathy Low posterior hairline Apnea Radial head subluxation Camptodactyly Feeding difficulties in infancy Protruding ear Elbow flexion contracture Carious teeth Abnormality of the foot Full cheeks Round face Brachial plexus neuropathy Neuritis Cutis gyrata of scalp Bifid uvula Deeply set eye Rigidity Paralysis Blepharophimosis Facial asymmetry Spinal deformities Long hallux Prolonged prothrombin time Abnormality of the mitochondrion Paresthesia Postural instability Periorbital fullness Hypotelorism Peripheral axonal degeneration Prolonged partial thromboplastin time Narrow face Narrow palpebral fissure Scapular winging Axonal degeneration Upper airway obstruction Dysostosis multiplex Facial paralysis Dysesthesia Weak voice Cubitus valgus Episodic abdominal pain Scaling skin Hyperactivity Radial deviation of finger Thin upper lip vermilion Atypical scarring of skin Generalized hypopigmentation Synophrys Abnormal cortical bone morphology Attention deficit hyperactivity disorder Generalized osteosclerosis Abnormal aortic morphology Developmental regression Generalized limb muscle atrophy Abnormal bone structure Osteopoikilosis Elevated hepatic transaminase Connective tissue nevi Scleroderma Diffuse skin atrophy Complete duplication of the distal phalanges of the hand Abnormal axial skeleton morphology Seizures Generalized hypotonia Hepatomegaly Macrocephaly Frontal bossing Intellectual disability, mild Splenomegaly Abnormality of metabolism/homeostasis Hepatosplenomegaly Inguinal hernia Smooth philtrum Multiple lipomas Opisthotonus Arthritis Coarse facial features Renal cell carcinoma Thoracolumbar scoliosis Trismus Excessive salivation Unexplained fevers Cold-induced sweating Visual impairment Abnormality of the dentition Memory impairment Skeletal dysplasia Arthralgia Joint stiffness Joint hypermobility Craniosynostosis Papule Palmoplantar keratoderma Nevus Macroglossia Abnormality of the metaphysis Subcutaneous nodule Abnormality of epiphysis morphology Narrow mouth Bone pain Hemangioma Flat occiput Hyperostosis Lymphedema Bilateral talipes equinovarus Upslanted palpebral fissure Cardiomyopathy Aplasia/Hypoplasia of the middle phalanges of the hand Hallux varus 3-4 finger syndactyly Metacarpal synostosis Proximal/middle symphalangism of 5th finger Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Aplasia/Hypoplasia of the hallux Aplasia/Hypoplasia of the middle phalanx of the 5th finger Symphalangism affecting the phalanges of the hallux Failure to thrive Brachydactyly Ventricular septal defect Patent ductus arteriosus Short hallux Abnormal heart morphology Pulmonic stenosis Specific learning disability Decreased body weight Bicuspid aortic valve Increased susceptibility to fractures Perimembranous ventricular septal defect Gastritis Arterial stenosis Intellectual disability, borderline Coronary artery stenosis Renal artery stenosis Symphalangism affecting the phalanges of the hand Aplasia/Hypoplasia of the thumb Carotid artery stenosis Dysarthria Recurrent infections Mandibular prognathia Aggressive behavior Thick lower lip vermilion Sacral dimple Tented upper lip vermilion Poor eye contact Fair hair Mood swings Horizontal eyebrow Microcephaly Ataxia Areflexia Short thumb Glaucoma Gait ataxia Ophthalmoplegia Limb muscle weakness Lower limb muscle weakness Distal sensory impairment Polyneuropathy Brain atrophy Urinary incontinence Decreased nerve conduction velocity Onion bulb formation Single transverse palmar crease Small nail Renovascular hypertension Headache Hyporeflexia Mild short stature Delayed speech and language development Midface retrusion Broad forehead Hip dislocation Genu valgum Talipes Thin vermilion border Hip dysplasia Bilateral sensorineural hearing impairment Rhizomelia Congenital hip dislocation Coxa vara Dislocated radial head Cerebral berry aneurysm Thoracic scoliosis Hypoplasia of the odontoid process Lower limb asymmetry Acetabular dysplasia Shallow acetabular fossae Dislocation of the femoral head Cleft palate Ptosis Fatigue Abnormality of the skeletal system Respiratory distress Edema Depressivity Sensorineural hearing impairment Abdominal aortic aneurysm Polydactyly Chronic kidney disease Joint laxity Abnormality of the kidney Stroke Arachnodactyly Stage 5 chronic kidney disease Hematuria Renal cyst Mitral valve prolapse Mitral regurgitation Recurrent urinary tract infections Nephrolithiasis Hepatic fibrosis Polycystic kidney dysplasia Colonic diverticula Portal hypertension Aortic aneurysm Tricuspid regurgitation Cerebral hemorrhage Disproportionate tall stature Dilatation of the cerebral artery Subarachnoid hemorrhage Enlarged kidney Cholangitis Congenital hepatic fibrosis Pancreatic cysts Hepatic cysts Tricuspid valve prolapse Expressive language delay



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Hepatosplenomegaly, related diseases and genetic alterations Hydrocephalus and Constipation, related diseases and genetic alterations Low-set ears and Low-set, posteriorly rotated ears, related diseases and genetic alterations

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