Short stature, and Peripheral axonal neuropathy

Diseases related with Short stature and Peripheral axonal neuropathy

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


Top matches:

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

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 CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

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Other less relevant matches:

Low match EAST SYNDROME


SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).

EAST SYNDROME Is also known as sesame syndrome|epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|east syndrome|epilepsy, ataxia, sensorineural deafness, and tubulopathy

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EAST SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13


MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

Low match GIANT AXONAL NEUROPATHY


Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

GIANT AXONAL NEUROPATHY Is also known as gan

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GIANT AXONAL NEUROPATHY

Low match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C


Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C Is also known as hmsn iic|charcot-marie-tooth neuropathy, type 2c|charcot-marie-tooth disease, axonal, autosomal dominant, type 2c|cmt2c

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C

Low match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Low match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Short stature and Peripheral axonal neuropathy

Symptoms // Phenotype % cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Sensory neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Short stature and Peripheral axonal neuropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Areflexia Muscle weakness Talipes equinovarus Dysarthria Generalized hypotonia Scoliosis Cognitive impairment Distal amyotrophy Cerebellar atrophy Sensory axonal neuropathy Sensorimotor neuropathy Seizures Distal muscle weakness Global developmental delay Hyporeflexia Hearing impairment Difficulty walking High palate Gait ataxia Muscular hypotonia Abnormality of the foot Sensorineural hearing impairment Generalized-onset seizure Pes cavus Cardiomyopathy Nystagmus Polyneuropathy

Rare Symptoms - Less than 30% cases


High forehead Curly hair Hammertoe Bilateral ptosis Retinal atrophy Sparse hair Cerebellar hypoplasia Short neck Mental deterioration Downslanted palpebral fissures Titubation Macrocephaly Ptosis Hypertelorism Delayed puberty Hyporeflexia of lower limbs Rod-cone dystrophy Dysphagia Motor axonal neuropathy Failure to thrive Sleep apnea Distal sensory impairment Paraplegia Growth delay Spastic paraplegia Babinski sign Skeletal muscle atrophy Spasticity Progressive peripheral neuropathy CNS hypomyelination Gait disturbance Abnormal facial shape Limb muscle weakness Abnormality of the skeletal system Myopathy Flexion contracture Dysmetria Hypoglycemia Elevated hepatic transaminase Left ventricular hypertrophy Unsteady gait Pes planus Inability to walk Hepatomegaly Thin upper lip vermilion Respiratory insufficiency Hepatosplenomegaly Increased muscle fatiguability Elevated serum creatine phosphokinase Deeply set eye Intellectual disability, mild Vocal cord paralysis Down-sloping shoulders Hand muscle weakness Oculomotor nerve palsy Wheezing Inspiratory stridor Vocal cord paresis Abducens palsy Shoulder girdle muscle atrophy Diaphragmatic weakness Obstructive sleep apnea Frontal bossing Hand muscle atrophy Micropenis Progressive cerebellar ataxia Thick eyebrow Retinal degeneration Small for gestational age Pallor Hypothyroidism Hypogonadism Bilateral vocal cord paralysis Severe short stature Alopecia Obesity Cryptorchidism Bilateral vocal cord paresis Decreased distal sensory nerve action potential Intercostal muscle weakness Urinary urgency Impaired vibratory sensation Stridor Respiratory failure Immunodeficiency Spastic diplegia Secondary amenorrhea Gonadal dysgenesis Severe sensorineural hearing impairment Increased circulating gonadotropin level Amelogenesis imperfecta Decreased serum testosterone level Limited extraocular movements Internuclear ophthalmoplegia Strabismus Fatigue Respiratory distress Pectus excavatum Skeletal dysplasia Spinal muscular atrophy Apnea Paralysis Hip dislocation Dolichocephaly Urinary incontinence Bilateral sensorineural hearing impairment Tetraparesis Hoarse voice Foot dorsiflexor weakness Pigmentary retinopathy Congenital hip dislocation Knee flexion contracture Depressed nasal bridge Dysphonia Growth hormone deficiency Long eyelashes Hypoplasia of penis Ventricular fibrillation Insomnia Restlessness Impaired pain sensation Impaired vibration sensation in the lower limbs Rhabdomyolysis Bowel incontinence Emotional lability Ventricular extrasystoles Personality changes Obsessive-compulsive behavior Ventricular arrhythmia Cardiac arrest Hallucinations Involuntary movements Atrial fibrillation Bipolar affective disorder Left bundle branch block Memory impairment Abnormal lactate dehydrogenase activity Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal social behavior Supraventricular tachycardia Impaired temperature sensation Generalized limb muscle atrophy Personality disorder Excessive salivation Orofacial dyskinesia Tics Acanthocytosis Neuronal loss in central nervous system Chorea Sparse scalp hair Alopecia areata Congestive heart failure Hypertonia Anemia Central heterochromia Long eyebrows Choroideremia Recurrent hypoglycemia Dystonia Progressive gait ataxia Chorioretinal atrophy Hypogonadotrophic hypogonadism Horizontal nystagmus Gynecomastia Primary amenorrhea Clumsiness Behavioral abnormality Splenomegaly Parkinsonism Abnormality of the cerebral white matter Dyskinesia Hemolytic anemia Paresthesia Confusion Lower limb muscle weakness Abnormality of movement Dilated cardiomyopathy Cerebral atrophy Anxiety Rigidity Dyspnea Hyperhidrosis Dementia Arrhythmia Depressivity Hyperkinesis Diffuse axonal swelling Amenorrhea Generalized tonic-clonic seizures Hypokalemia Sinus tachycardia Intention tremor Increased hepatic glycogen content Postural instability Metabolic acidosis Intellectual disability, moderate Polydipsia Proteinuria Acidosis Vomiting Feeding difficulties Tremor Hypertension Dysdiadochokinesis Polyuria Wide nasal bridge Abnormality of the renal tubule Peripheral hypomyelination Renal potassium wasting Chronic axonal neuropathy Hypokalemic metabolic alkalosis Hypocalciuria Increased circulating renin level Abnormality of the mitochondrion Glycosuria Metabolic alkalosis Enuresis Alkalosis Renal salt wasting Hypomagnesemia Hyperaldosteronism Delayed speech and language development Neuropathic arthropathy Renal sodium wasting Poor head control Hip dysplasia Myopia Low-set ears Broad-based gait Joint contracture of the hand Sandal gap Impaired tactile sensation Atrial septal defect Sensory ataxia Impaired proprioception Distal arthrogryposis Delayed ability to walk Narrow nasal bridge Long nose Anteverted nares Posteriorly rotated ears Arthropathy Mitral valve prolapse Camptodactyly Absent eyebrow Sparse eyebrow Arthrogryposis multiplex congenita Hemangioma Fine hair Ichthyosis Hyperkeratosis Pulmonic stenosis Broad forehead Arachnodactyly Low-set, posteriorly rotated ears Coarse facial features Proptosis Salt craving Microcephaly Infertility Fasciculations Amyotrophic lateral sclerosis Brisk reflexes Steppage gait Abnormality of the hand Spastic paraparesis Paraparesis Abnormality of the hair Axonal loss Sensory impairment Abnormal cerebellum morphology Lactic acidosis Falls Joint hypermobility Thin vermilion border Decreased number of peripheral myelinated nerve fibers Facial diplegia Broad nasal tip Pili canaliculi Midface retrusion Ophthalmoplegia Abnormality of the nervous system Osteoporosis Myopathic facies Abnormality of the Achilles tendon Abnormality of the pituitary gland Bulbar signs Curly eyelashes Abnormal hand morphology Red hair Morphological abnormality of the pyramidal tract Areflexia of lower limbs Woolly hair Genu valgum Full cheeks Abnormality of lipid metabolism Brachycephaly Everted lower lip vermilion Small hand Downturned corners of mouth Polymicrogyria Wide mouth Kyphoscoliosis Prominent forehead Focal-onset seizure Exercise intolerance Hyperlipidemia Intellectual disability, severe Hypoplasia of the corpus callosum Ventriculomegaly Neurodevelopmental delay Tetraplegia Waddling gait Abnormal pyramidal sign Hepatic fibrosis Facial palsy Proximal muscle weakness Cardiomegaly Ventricular hypertrophy Hypertriglyceridemia Hyperreflexia Broad palm Spastic tetraplegia Cortical dysplasia Toe walking Hypoplasia of the brainstem Plagiocephaly Short toe Heterotopia Pachygyria Abnormality of the astrocytes



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