Cleft palate, and Peripheral neuropathy

Diseases related with Cleft palate and Peripheral neuropathy

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


Top matches:

Low match NEURALGIC AMYOTROPHY


Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.

NEURALGIC AMYOTROPHY Is also known as mononeuritis multiplex with brachial predilection|acute brachial plexus neuritis|immune brachial plexus neuropathy|brachial plexus neuritis|neuralgic shoulder amyotrophy

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about NEURALGIC AMYOTROPHY

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 LYMPHEDEMA, HEREDITARY, IA; LMPH1A


Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Hereditary Primary LymphedemaPrimary lymphedema is genetically heterogeneous: see also LMPH1B (OMIM ), which maps to chromosome 6q16.2-q22.1; LMPH1C (OMIM ), caused by mutation in the GJC2 gene (OMIM ) on chromosome 1q42; and LMPH1D (OMIM ), caused by mutation in the VEGFC gene (OMIM ) on chromosome 4q34. Hereditary lymphedema III (LMPH3 ) is caused by mutaiton in the PIEZO1 gene (OMIM ) on chromosome 16q24.Also see hereditary lymphedema type II (OMIM ), also known as Meige lymphedema.Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (OMIM ), which is caused by mutation in the FOXC2 gene (OMIM ).

LYMPHEDEMA, HEREDITARY, IA; LMPH1A Is also known as primary congenital lymphedema|pcl|nonne-milroy lymphedema|lymphedema, early-onset|milroy disease

Related symptoms:

  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, IA; LMPH1A

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Other less relevant matches:

Low match OROFACIAL CLEFT 5; OFC5


OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 5; OFC5

Low match OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6


OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

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 LYMPHEDEMA-DISTICHIASIS SYNDROME


Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

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 VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Low match NAIL-PATELLA SYNDROME; NPS


NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Top 5 symptoms//phenotypes associated to Cleft palate and Peripheral neuropathy

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Paresthesia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Edema Scoliosis Cleft upper lip Ptosis Hypertension Recurrent urinary tract infections Narrow chest Skeletal muscle atrophy Hearing impairment

Rare Symptoms - Less than 30% cases


Conjunctivitis Clinodactyly of the 5th finger Arthrogryposis multiplex congenita Platyspondyly Joint stiffness Low-set, posteriorly rotated ears Skeletal dysplasia Tubulointerstitial nephritis Severe short stature Abnormality of cardiovascular system morphology Midface retrusion Proteinuria Varicose veins Kyphosis Cellulitis Arrhythmia Photophobia Predominantly lower limb lymphedema Pulmonary hypoplasia Nail dysplasia Lymphedema Abnormality of the liver Anonychia Micromelia Confusion Abnormal form of the vertebral bodies Respiratory insufficiency Narrow mouth Paralysis Lumbar hyperlordosis Broad forehead Round face Hypoplasia of the odontoid process Scapular winging Depressed nasal bridge Glaucoma Respiratory distress Flexion contracture Distichiasis Osteoarthritis Sensorineural hearing impairment Abnormality of the metaphysis Limb undergrowth Interphalangeal joint contracture of finger Talipes equinovarus Abdominal pain Weight loss Intestinal obstruction Intestinal malrotation Abdominal distention Portal hypertension Hydronephrosis Prominent nasal bridge Polyhydramnios Hypoalbuminemia Umbilical hernia External ophthalmoplegia Pancreatitis Horseshoe kidney Vesicoureteral reflux Ophthalmoplegia Aganglionic megacolon Overgrowth Arachnodactyly Cryptorchidism Pneumonia Spondyloepiphyseal dysplasia Barrel-shaped chest Vitreoretinopathy Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Bowing of the legs Back pain Myelopathy Genu varum Growth abnormality Sleep apnea Coxa vara Rhizomelia Abnormality of epiphysis morphology Abnormal lung morphology High myopia Ovoid vertebral bodies Limited elbow movement Constipation Failure to thrive Dilatation Diarrhea Vomiting Myopathy Anteverted nares Dysphagia Fever Micrognathia Microcephaly Flattened epiphysis Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Malnutrition Microcolon Hydroureter Blue irides Aplasia/Hypoplasia of the patella Patellar hypoplasia Concave nail Ridged nail Patellar aplasia Raynaud phenomenon Abnormality of the elbow Cervical ribs Patellar dislocation Renal cell carcinoma Keratoconus Colon cancer Limited elbow extension Nephritis Glomerulonephritis Microalbuminuria Congenital nephrotic syndrome Abnormality of the urinary system Thickening of the lateral border of the scapula Lester's sign Absence of pectoralis minor muscle Elongated radius Triceps aplasia Disproportionate prominence of the femoral medial condyle Quadriceps aplasia Stellate iris Hypoplastic radial head Albuminuria Iliac horns Glenoid fossa hypoplasia Hypoplasia of first ribs Microphakia Deep-set nails Antecubital pterygium Absent distal interphalangeal creases Pterygium Aortic regurgitation Disproportionate tall stature Intestinal pseudo-obstruction Barrett esophagus Urethral obstruction Megacystis Prune belly Limitation of joint mobility Pollakisuria Urinary retention Abdominal situs inversus Gastrointestinal obstruction Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Volvulus Achalasia Chronic constipation Episodic abdominal pain Hyperparathyroidism Neuroma Hypoperistalsis Spina bifida Nail dystrophy Renal dysplasia Nephrotic syndrome Microcornea Nephropathy Hematuria Oral cleft Talipes Abnormality of the kidney Megaduodenum Cleft lip Pes planus Osteoporosis Pectus excavatum Renal insufficiency Neoplasm Seizures Waddling gait Lipedema Retinal detachment Tetralogy of Fallot Hydrocele testis Edema of the lower limbs Pleural effusion Hemangioma Abnormality of the nail Hydrops fetalis Ascites Hypoproteinemia Pulmonic stenosis Ventricular septal defect Strabismus Brachial plexus neuropathy Radial head subluxation Cutis gyrata of scalp Nonimmune hydrops fetalis Abnormality of the amniotic fluid Neuritis Kyphoscoliosis Akinesia Epiphyseal dysplasia Short ribs Abnormality of the ribs Peripheral axonal neuropathy Camptodactyly of finger High forehead Chylous ascites Respiratory failure Prominent forehead Hydrocephalus Brachydactyly Hyperkeratosis over edematous areas Hypoplasia of lymphatic vessels Peripheral axonal degeneration Weak voice Short finger Abnormal facial shape Depressivity Syndactyly Abnormality of the skeletal system Fatigue Epicanthus Low-set ears Acrocyanosis Hyperhidrosis Sprengel anomaly EMG abnormality Polyneuropathy Sleep disturbance Neurological speech impairment Arthralgia Hyporeflexia Upslanted palpebral fissure Dysesthesia Hypotelorism Chronic pain Facial paralysis Axonal degeneration Narrow palpebral fissure Narrow face Hoarse voice Sensory impairment Deeply set eye Bifid uvula Postural instability Facial asymmetry Finger syndactyly Blepharophimosis Myalgia Rigidity Multiple joint contractures Abnormal joint morphology Flat face Knee pain Growth delay Generalized hypotonia Intellectual disability Spinalarachnoid cyst Abnormality of the pulmonary vasculature Fibrosarcoma Renal duplication Nystagmus Venous insufficiency Corneal erosion Overweight Glomerulopathy Ectropion Recurrent skin infections Hypertelorism Muscular hypotonia Telangiectasia Hyperlordosis Retinal degeneration Genu valgum Hip dislocation Pectus carinatum Autoimmunity Respiratory tract infection Apnea Myopia Arthritis Polydactyly Hernia Malar flattening Congestive heart failure Short neck Gait disturbance Gynecomastia Webbed neck Aplasia/Hypoplasia of the lungs Long thorax Abnormal enchondral ossification Cervical instability Severe platyspondyly Pseudoarthrosis Caudal appendage Abnormality of the intervertebral disk Thoracic kyphoscoliosis Flared femoral metaphysis Rough bone trabeculation Spondylometaphyseal dysplasia Enlarged joints Flared iliac wings Abnormal cortical bone morphology Fetal akinesia sequence Anisospondyly Hypoplastic cervical vertebrae Growth hormone deficiency Absent primary metaphyseal spongiosa Bruising susceptibility Anxiety Diabetes mellitus Hypogonadism Patent ductus arteriosus Obesity Hyperplasia of the femoral trochanters Short diaphyses Halberd-shaped pelvis Dumbbell-shaped metaphyses Long coccyx Abnormal metaphyseal vascular invasion Relatively short spine Snail-like ilia Flared humeral metaphysis Biceps aplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Encephalopathy, related diseases and genetic alterations Macrocephaly and Hyperhidrosis, related diseases and genetic alterations Hydrocephalus and Abnormality of eye movement, related diseases and genetic alterations Cleft palate and Hypopigmentation of the skin, related diseases and genetic alterations Scoliosis and Congenital diaphragmatic hernia, related diseases and genetic alterations Fever and Micromelia, related diseases and genetic alterations

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