Micrognathia, and Sensory neuropathy

Diseases related with Micrognathia and Sensory neuropathy

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

Top matches:

PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

Other less relevant matches:

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Low match ACROOSTEOLYSIS

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

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

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization (summary by O'Grady et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 8; MFM8

Top 5 symptoms//phenotypes associated to Micrognathia and Sensory neuropathy

Symptoms // Phenotype % cases
Paresthesia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Micrognathia and Sensory neuropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Short stature Abnormality of the dentition Ataxia Global developmental delay Hearing impairment Flexion contracture Pes cavus Generalized amyotrophy Hypertelorism Cleft palate Intrauterine growth retardation Microcornea Microcephaly Strabismus Proximal muscle weakness High palate Epicanthus Abnormality of the skeletal system Wide nasal bridge Ptosis Talipes equinovarus Kyphosis Camptodactyly of finger Anteverted nares Myopia Brachydactyly Osteoporosis Hyporeflexia Seizures Areflexia Congenital cataract Generalized hypotonia Nystagmus Hypertriglyceridemia

Rare Symptoms - Less than 30% cases

Decreased fetal movement Upslanted palpebral fissure Axonal loss Small hand Sacral dimple Clinodactyly of the 5th finger Dental crowding Impaired pain sensation Mandibular prognathia High forehead Failure to thrive Cerebral cortical atrophy Deeply set eye Hypoglycemia Microphthalmia Conductive hearing impairment Ventriculomegaly Abnormality of the eye Motor delay Cognitive impairment Abnormality of vision Abnormality of the metaphysis Respiratory distress Feeding difficulties in infancy Spinal rigidity Clinodactyly Low-set ears Pain Umbilical hernia Hypothyroidism Dry skin Respiratory tract infection Recurrent fractures Full cheeks Bowing of the long bones Feeding difficulties Abnormality of the fingernails Abnormality of the kidney Hypohidrosis Open bite Pes planus Skeletal dysplasia Synophrys Osteopenia Narrow mouth Recurrent respiratory infections Inguinal hernia Patent ductus arteriosus Malar flattening Falls Abnormal cortical bone morphology Ventricular septal defect Edema Short nose Abnormality of cardiovascular system morphology Oligohydramnios Hypoplasia of dental enamel Asthma Hypercholesterolemia Peripheral axonal neuropathy Abnormal facial shape Muscular hypotonia Hypertension Skeletal muscle atrophy Gait disturbance Dysphagia Lipodystrophy Myopathy Hyperlordosis Elevated serum creatine phosphokinase Obesity Growth delay Arrhythmia Dysmetria Lower limb muscle weakness Babinski sign Elbow flexion contracture Spasticity Peripheral demyelination Broad-based gait Scapular winging Congenital contracture Joint contracture of the 5th finger Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Frequent falls Midface retrusion Cranial hyperostosis Madelung deformity 3-4 toe syndactyly Prominent forehead Diaphragmatic eventration Brachycephaly Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Broad alveolar ridges Posteriorly rotated ears Tooth abscess Sensorineural hearing impairment Multiple prenatal fractures Neonatal hypotonia Hypoplasia of the corpus callosum Frontal bossing Facial palsy Delayed speech and language development Distal muscle weakness Cryptorchidism Thin anteverted nares Abnormality iris morphology Vertebral hyperostosis Selective tooth agenesis Abnormality of metabolism/homeostasis Fractures of the long bones 4-5 finger syndactyly Abnormal heart morphology Constipation Behavioral abnormality Pseudohypoparathyroidism Slow-growing hair Broad columella Cubitus valgus Nemaline bodies Basal ganglia calcification Metaphyseal dysplasia High hypermetropia Narrow nasal bridge Progressive spasticity Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Hand polydactyly Hyperactive deep tendon reflexes Brittle hair Preaxial polydactyly Bilateral ptosis Reduced number of teeth Myofibrillar myopathy Spastic tetraparesis Abnormality of dental enamel Spastic paraparesis Paraparesis Abnormality of the nail Lymphedema Curly hair Progressive proximal muscle weakness Trichorrhexis nodosa Taurodontia Short middle phalanx of the 5th finger Dry hair Neurogenic bladder Tall stature Abnormality of the nose Progressive muscle weakness Short hallux Mild global developmental delay Retinal dysplasia Low hanging columella Fragile nails Abnormality of the clavicle Neck muscle weakness Poor head control Hypoparathyroidism Easy fatigability Narrow nose Nasal speech Gowers sign Median cleft lip Difficulty climbing stairs Difficulty running External ear malformation Premature loss of teeth Hyperactivity Abnormal autonomic nervous system physiology Muscle fiber atrophy Duodenal atresia Deep palmar crease Abnormality of the larynx Broad face Trismus Lacrimation abnormality Thickened cortex of long bones Ectopic thyroid Thick upper lip vermilion Decreased corneal reflex Flexion contracture of finger Cavum septum pellucidum Smooth tongue Bruxism Absent patellar reflexes Short attention span Chronic constipation Cardiomyopathy Self-mutilation Congestive heart failure Overweight Respiratory failure Abnormal renal morphology Recurrent ear infections Abnormal cardiac septum morphology Abnormality of the forearm Metaphyseal widening Limitation of joint mobility Micromelia Genu valgum Episodic fever Apnea Hyperhidrosis Sleep-wake inversion Frequent temper tantrums Head-banging Midline brain calcifications Everted upper lip vermilion Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Hyperacusis Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Drowsiness Protruding tongue Polyhydramnios Paralysis Pulmonary hypoplasia Nephropathy Short palm Premature birth Microretrognathia Severe muscular hypotonia Oral cleft Lethargy Microtia Patent foramen ovale Cleft lip Sleep disturbance Intellectual disability, moderate Aggressive behavior Spinal muscular atrophy Neonatal respiratory distress Knee flexion contracture Anxiety EEG abnormality Increased variability in muscle fiber diameter Gastroesophageal reflux Secundum atrial septal defect Retinal detachment Single transverse palmar crease Broad palm Increased body weight Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Impulsivity Self-injurious behavior Abnormality of the urinary system Arthrogryposis multiplex congenita Drooling Abnormality of the outer ear Lissencephaly Hoarse voice Delayed eruption of teeth Abnormal vertebral morphology Sinusitis Stereotypy Heterotopia Pachygyria Omphalocele Abnormality of the cardiovascular system Otitis media Esotropia Macroglossia Poor suck Premature loss of permanent teeth Abnormal form of the vertebral bodies Increased LDL cholesterol concentration Absent muscle fiber emerin Pelvic girdle muscle atrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Ventricular escape rhythm Permanent atrial fibrillation Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Shoulder girdle muscle atrophy Supraventricular arrhythmia Restricted neck movement due to contractures Pelvic girdle muscle weakness Proximal muscle weakness in lower limbs Hyporeflexia of lower limbs Increased connective tissue Decreased HDL cholesterol concentration Achilles tendon contracture Limb-girdle muscle weakness Shoulder girdle muscle weakness Progeroid facial appearance Ankle contracture Sprengel anomaly Decreased cervical spine flexion due to contractures of posterior cervical muscles Fever Restrictive ventilatory defect Primary amenorrhea Rhabdomyolysis Secondary amenorrhea Axonal degeneration Decreased motor nerve conduction velocity Postural tremor CNS hypomyelination Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Long eyelashes Split hand Intention tremor Tremor Interphalangeal joint contracture of finger Amenorrhea Decreased testicular size Chorea Polyneuropathy Abnormal pyramidal sign Myalgia Kyphoscoliosis Hypogonadism Cerebral atrophy Intellectual disability, mild Rimmed vacuoles Toe walking Malignant hyperthermia Hyperlipidemia Decreased body weight Severe short stature Intellectual disability, severe Decreased adipose tissue around neck Lack of facial subcutaneous fat Loss of subcutaneous adipose tissue in limbs Absence of subcutaneous fat Orthostatic hypotension Brisk reflexes Glucose intolerance Acanthosis nigricans Metaphyseal irregularity Pancreatitis Clonus Insulin resistance Abnormality of the face Epidermal acanthosis Pigmentary retinopathy Hypotension Distal sensory impairment Retinopathy Gait ataxia Rod-cone dystrophy Coxa vara Short femoral neck Congenital muscular dystrophy Lumbar hyperlordosis Myotonia Limb-girdle muscular dystrophy Back pain Atrioventricular block EMG: myopathic abnormalities Reduced tendon reflexes Diplopia Abnormal lung morphology Palpitations Atrial fibrillation Waddling gait Thoracic scoliosis Sudden cardiac death Vertigo Ichthyosis Limb muscle weakness Dilated cardiomyopathy Muscular dystrophy Joint stiffness Pectus excavatum Sinus tachycardia Vertical nystagmus Metaphyseal cupping Myoglobinuria Genu recurvatum Short palpebral fissure Basilar impression Blindness Atrial septal defect Optic atrophy Dysarthria Hyperreflexia Visual impairment Osteolytic defects of the phalanges of the toes Partial absence of toe Hypoplastic 5th lumbar vertebrae Basilar invagination Flank pain Visual loss Absent frontal sinuses Rough bone trabeculation Biconcave vertebral bodies Respiratory arrest Platybasia Decreased skull ossification Mitral stenosis Osteolytic defects of the phalanges of the hand Periodontitis Multiple renal cysts Patellar dislocation Syndactyly Glaucoma Prominent occiput Paraplegia Tetraparesis Fine hair Hypotelorism Cerebral calcification Overgrowth Microdontia Underdeveloped nasal alae Palmoplantar keratoderma Flat face Cleft upper lip Toe syndactyly Polydactyly Carious teeth Hypotrichosis Abnormality of the cerebral white matter Spastic paraplegia Hip dislocation Finger syndactyly Blepharophimosis Sparse hair Abnormality of the pinna Camptodactyly Abnormality of the nervous system Syringomyelia Delayed cranial suture closure Motor axonal neuropathy Short neck Joint laxity Coarse facial features Arthralgia Hypospadias Hernia Recurrent infections Headache Long philtrum Splenomegaly Hydrocephalus Downslanted palpebral fissures Pectus carinatum Macrocephaly Hepatomegaly Peripheral hypomyelination Acute rhabdomyolysis Upper limb postural tremor Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Motor polyneuropathy Abnormality of peripheral nerve conduction Decreased serum estradiol Telecanthus Dolichocephaly Glomerulonephritis Bone pain Abnormality of the voice Polycystic kidney dysplasia Coarse hair Arnold-Chiari malformation Osteolysis Wormian bones Generalized hirsutism Low anterior hairline Skin ulcer Aortic valve stenosis Short toe Thickened skin Delayed puberty Dental malocclusion Intestinal malrotation Hematuria Downturned corners of mouth Iris coloboma Wide nose Short distal phalanx of finger Thick eyebrow Thin vermilion border Joint hypermobility Joint hyperflexibility Reduced vital capacity


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