Depressed nasal bridge, and Sensory neuropathy

Diseases related with Depressed nasal bridge and Sensory neuropathy

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

Top matches:

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

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

CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME Is also known as cagsss

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME

Other less relevant matches:

Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).

PSEUDOHYPOPARATHYROIDISM TYPE 1C Is also known as php ic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1C

Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH ). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, {188540}) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Mantovani and Spada, 2006).In contrast, pseudopseudohypoparathyroidism (PPHP ) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006).PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.

PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A Is also known as albright hereditary osteodystrophy with multiple hormone resistance|php ia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

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

NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Sensory neuropathy

Symptoms // Phenotype % cases
Hyporeflexia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Depressivity Common - Between 50% and 80% cases
Paresthesia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Depressed nasal bridge and Sensory neuropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dyspnea Nystagmus Growth hormone deficiency Full cheeks Anxiety Intellectual disability Myoclonic spasms Pseudohypoparathyroidism Sensorineural hearing impairment Hypocalcemic seizures Hypoplasia of dental enamel Hypocalcemic tetany Low urinary cyclic AMP response to PTH administration Pituitary resistance to thyroid hormone Elevated circulating parathyroid hormone level Abnormality of the skeletal system Laryngeal dystonia Abdominal symptom Calcinosis Hypocalcemia Muscle weakness Cognitive impairment Peripheral neuropathy Short metacarpal Round face Chest pain Muscle cramps Delayed eruption of teeth Increased bone mineral density Short neck Hyperphosphatemia Obesity Prolonged QT interval Conjunctivitis Seizures Brachydactyly Irritability Confusion Reduced bone mineral density Osteoma cutis Choroid plexus calcification Broad distal phalanx of the thumb Short fifth metatarsal Short 3rd metacarpal Ectopic ossification Short 5th metacarpal Prolactin deficiency Constrictive median neuropathy Short 4th metacarpal Oligomenorrhea Basal ganglia calcification Autoimmune antibody positivity Polyphagia Osteoporosis Short metatarsal Hypothyroidism Hypergonadotropic hypogonadism Abnormality of the dentition Hearing impairment

Rare Symptoms - Less than 30% cases

Hepatomegaly Strabismus Skeletal dysplasia Band keratopathy Spinal cord compression Genu valgum Hypogonadism Thickened calvaria Deeply set eye Choreoathetosis Hypertension Narrow mouth Prominent forehead Upslanted palpebral fissure Subcutaneous nodule Tetany Flexion contracture Feeding difficulties Axonal degeneration Cardiomyopathy Pain Cerebral calcification Elevated hepatic transaminase Abnormal platelet function Thick eyebrow Elevated calcitonin Hypoglycemia Motor delay Sensory impairment Peripheral axonal neuropathy Distal sensory impairment Bilateral sensorineural hearing impairment Broad 1st metacarpal Hyperostosis frontalis interna Cardiomegaly Intellectual disability, mild Broad columella Increased bone density with cystic changes Hypertonia Cerebral cortical atrophy Short nose Absent speech Diaphyseal sclerosis Constipation Tics Hyperactivity Progressive spasticity Gastroesophageal reflux Prominent supraorbital ridges Widely spaced teeth Ectopic calcification Autism Progressive microcephaly Unsteady gait Downturned corners of mouth Stereotypy Broad-based gait Open mouth Esotropia Everted lower lip vermilion Highly arched eyebrow Hyperparathyroidism Cortical subperiosteal resorption of humeral metaphyses Thin upper lip vermilion Macrocephaly Shortening of all distal phalanges of the fingers Thin vermilion border Short toe Short finger Congenital hypothyroidism Exocrine pancreatic insufficiency Parathyroid hyperplasia Subcutaneous calcification Broad nasal tip Growth delay Muscular hypotonia Myopathy Immunodeficiency Midface retrusion Elevated serum creatine phosphokinase Lactic acidosis Distal amyotrophy Involuntary movements Spasticity Increased muscle fatiguability Failure to thrive Microcephaly Generalized hypotonia Global developmental delay Increased hepatic glycogen content Sinus tachycardia Hepatosplenomegaly Ventricular hypertrophy Abnormality of lipid metabolism Neurodevelopmental delay Hyperlipidemia Exercise intolerance Hepatic fibrosis Left ventricular hypertrophy Hypertriglyceridemia Diarrhea Adrenal insufficiency Dyskinesia Rigidity Abnormal facial shape Cleft palate Ptosis Low-set ears Epicanthus Skeletal muscle atrophy Fatigue Respiratory distress Edema Syndactyly Hyperhidrosis Myalgia White mater abnormalities in the posterior periventricular region Paralysis Blepharophimosis Finger syndactyly Facial asymmetry Postural instability Bifid uvula Hypotelorism Hoarse voice Narrow face Narrow palpebral fissure Scapular winging Telangiectasia of the oral mucosa Distal sensory impairment of all modalities Chronic pain Thick lower lip vermilion Cerebral atrophy Hyperkeratosis Coarse facial features Abnormality of the eye Distal muscle weakness Papule Abnormality of the cerebral white matter Dry skin Vertigo Thick vermilion border Polyneuropathy Telangiectasia Increased urinary O-linked sialopeptides Lymphedema Aminoaciduria Opacification of the corneal stroma Tinnitus Telangiectasia of the skin Abnormality of the periventricular white matter Motor polyneuropathy Progressive distal muscle weakness Angiokeratoma Angiokeratoma corporis diffusum Lip telangiectasia Facial paralysis Dysesthesia Renal insufficiency Cholelithiasis Arthralgia Jaundice Pallor Nyctalopia Malabsorption Delayed puberty Cirrhosis Neutropenia Pulmonary arterial hypertension Skin ulcer Venous thrombosis Abnormality of the thorax Arrhythmia Microcytic anemia Hypoparathyroidism Increased serum ferritin Abnormality of the skull Cardiorespiratory arrest Neoplasm of the liver Abnormality of the hypothalamus-pituitary axis Abnormal hemoglobin Hypersplenism Monochromacy Malar prominence Diabetes mellitus Fever Weak voice Hip dysplasia Neuritis Peripheral axonal degeneration Cutis gyrata of scalp Radial head subluxation Brachial plexus neuropathy Scoliosis Long philtrum Osteopenia Hip dislocation Congenital cataract Sensorimotor neuropathy Visual impairment Congenital hip dislocation Spondyloepiphyseal dysplasia Progressive sensorineural hearing impairment Spinal canal stenosis Achalasia Fasting hypoglycemia Prelingual sensorineural hearing impairment Thoracic kyphoscoliosis Multiple skeletal anomalies Cervical spinal canal stenosis Periarticular subcutaneous nodules Anemia Happy demeanor


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