Brachydactyly, and Sensory neuropathy

Diseases related with Brachydactyly and Sensory neuropathy

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


Top matches:

Low match CHONDRODYSPLASIA, GREBE TYPE


Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

Low match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1B


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

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Other less relevant matches:

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1C


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

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1A


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

Low match PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A


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

Low match ACROOSTEOLYSIS


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Low match OCULODENTODIGITAL DYSPLASIA


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

Low match SMITH-MAGENIS SYNDROME; SMS


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

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Paresthesia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Full cheeks Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypoplasia of dental enamel

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the dentition Obesity Short neck Hyporeflexia Delayed eruption of teeth Pseudohypoparathyroidism Growth hormone deficiency Short metacarpal Seizures Anxiety Nystagmus Abnormality of the skeletal system Hearing impairment Scoliosis Hyperphosphatemia Hypocalcemia Conjunctivitis Low urinary cyclic AMP response to PTH administration Prolonged QT interval Constrictive median neuropathy Elevated circulating parathyroid hormone level Calcinosis Basal ganglia calcification Abdominal symptom Laryngeal dystonia Hypocalcemic seizures Myoclonic spasms Hypocalcemic tetany Increased bone mineral density Pituitary resistance to thyroid hormone Round face Irritability Cognitive impairment Depressed nasal bridge Depressivity Dyspnea Strabismus Muscle cramps Chest pain Kyphosis Short 4th metacarpal Confusion Osteoma cutis Sensorineural hearing impairment Choroid plexus calcification Broad distal phalanx of the thumb Cerebral calcification Short fifth metatarsal Short 5th metacarpal Short 3rd metacarpal Oligomenorrhea Short metatarsal Prolactin deficiency Polyphagia Hypergonadotropic hypogonadism Ectopic ossification Hypertension Umbilical hernia Growth delay Ataxia Edema Anteverted nares Myopia Reduced bone mineral density Cleft palate Micrognathia Hypertelorism Osteoporosis Autoimmune antibody positivity Inguinal hernia Pain Gait disturbance Hypothyroidism

Rare Symptoms - Less than 30% cases


Deeply set eye Conductive hearing impairment Microcornea Pes cavus Visual loss Hypogonadism Muscle weakness Synophrys Dry skin Upslanted palpebral fissure Abnormality of the fingernails Open bite Microcephaly Visual impairment Malar flattening Epicanthus Dysarthria Optic atrophy Paraparesis Short nose Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Abnormality of the kidney Ventricular septal defect High forehead Abnormal platelet function Mandibular prognathia Clinodactyly Areflexia Thickened calvaria Spinal cord compression Band keratopathy Elevated calcitonin Wide nasal bridge Hyperostosis frontalis interna Broad 1st metacarpal Hypoglycemia Short toe Failure to thrive Low-set ears Peripheral neuropathy Choreoathetosis Tetany Abnormality of the metaphysis Impaired pain sensation Disproportionate short-limb short stature Limb undergrowth Macroglossia Short foot Broad-based gait Osteopenia Skeletal dysplasia Ulnar deviation of the hand Genu valgum Pectus carinatum Arthralgia Osteoarthritis Joint laxity Metaphyseal dysplasia Polydactyly Hernia Hyperlordosis Delayed puberty Joint hyperflexibility Short palm Short distal phalanx of finger Severe short stature Abnormal vertebral morphology Hypoparathyroidism Abnormality of the clavicle Abnormal cortical bone morphology Retinal dysplasia Short hallux Mild global developmental delay Distal sensory impairment Taurodontia Fragile nails Low hanging columella Nephropathy Abnormality of the nose Distal amyotrophy 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Distal muscle weakness Joint contracture of the 5th finger Cranial hyperostosis Abnormality of the foot Madelung deformity Neurogenic bladder Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Selective tooth agenesis Broad columella Trichorrhexis nodosa Sensory impairment Dry hair Slow-growing hair Short middle phalanx of the 5th finger Curly hair Narrow nose Short palpebral fissure Language impairment Abnormality of the nail Skeletal muscle hypertrophy Lymphedema Dental crowding Progressive sensorineural hearing impairment Abnormal form of the vertebral bodies Thoracic scoliosis Excessive daytime somnolence Abnormality of peripheral nerve conduction Joint contracture of the hand Tetraparesis Fine hair Hypotelorism Overgrowth Microdontia Underdeveloped nasal alae Positive Romberg sign Palmoplantar keratoderma Flat face Cleft upper lip Spastic paraparesis Abnormality of dental enamel Median cleft lip Hyperostosis External ear malformation Premature loss of teeth Hyperactive deep tendon reflexes Difficulty walking High hypermetropia Narrow nasal bridge Progressive spasticity Abnormality of the ear Non-midline cleft lip Preaxial hand polydactyly Spastic tetraparesis Aplasia/Hypoplasia of the cerebellum Cubitus valgus Hand polydactyly Brittle hair Preaxial polydactyly Bilateral ptosis Reduced number of teeth Abnormality of vision Peripheral demyelination Short thumb Vertebral hyperostosis Skeletal muscle atrophy Thin anteverted nares Sacral dimple Heterotopia Stereotypy Sinusitis Hoarse voice Increased body weight Lissencephaly Hypercholesterolemia Abnormality of the outer ear Drooling Prominent forehead Pachygyria Abnormality of the urinary system Poor suck Self-injurious behavior Impulsivity Toe syndactyly Abnormality of the thyroid gland Progressive spastic paraplegia Posteriorly rotated ears Abnormality of the immune system Brachycephaly Omphalocele Protruding tongue Gastroesophageal reflux Oral cleft Lethargy Microtia Paralysis Cleft lip Intellectual disability, moderate Aggressive behavior EEG abnormality Pes planus Polyhydramnios Hypertriglyceridemia Cerebral cortical atrophy Small hand Retinal detachment Sleep disturbance Single transverse palmar crease Esotropia Otitis media Abnormality of the cardiovascular system Hyperactivity Decreased fetal movement Broad palm Drowsiness Global developmental delay Abnormality of the forearm Morphological abnormality of the middle ear Behavioral abnormality Hypoplasia of the corpus callosum Ventriculomegaly Frontal bossing Intrauterine growth retardation Motor delay Abnormal tracheobronchial morphology Midline brain calcifications Head-banging Abnormality of upper lip Frequent temper tantrums Sleep-wake inversion Delayed speech and language development Falls Tremor Feeding difficulties Cryptorchidism Pectus excavatum Gait ataxia Generalized hypotonia Midface retrusion Abnormality of metabolism/homeostasis Overweight Abnormality of the larynx Self-mutilation Constipation Abnormal heart morphology Chronic constipation Short attention span Bruxism Duodenal atresia Thick upper lip vermilion Broad face Deep palmar crease Pelvic kidney Abnormal renal morphology Cavum septum pellucidum Recurrent ear infections Everted upper lip vermilion Velopharyngeal insufficiency Excessive daytime sleepiness Recurrent aspiration pneumonia Mood changes Hyperacusis Premature atrial contractions Paraplegia Skin ulcer Carious teeth Disproportionate short stature Multiple epiphyseal dysplasia Beaking of vertebral bodies Delayed epiphyseal ossification Genu recurvatum Upper limb undergrowth Insulin-resistant diabetes mellitus Hypoplasia of the odontoid process Spinal canal stenosis Abnormal joint morphology Abnormality of the hip bone Intestinal polyposis Limited elbow extension Flared metaphysis Bowing of the legs Spondyloepiphyseal dysplasia Metaphyseal irregularity Rickets Scaling skin Metaphyseal widening Epiphyseal dysplasia Enlarged joints Decreased serum testosterone level Genu varum Cervical cord compression Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Lumbar spinal canal stenosis Childhood onset short-limb short stature Limited hip extension Irregular carpal bones Flared femoral metaphysis Cervical instability Irregular epiphyses Premature osteoarthritis Cervical myelopathy Ulnar deviation of the wrist Atlantoaxial dislocation Decreased testosterone in males Hamartomatous polyposis Carpal bone hypoplasia Myelopathy Decreased serum estradiol Small epiphyses Hyperinsulinemia Short long bone Small epiphyses of the phalanges of the hand Hydrops fetalis Prolonged neonatal jaundice Hallux valgus Metatarsus adductus Hypoplasia of the ulna Short middle phalanx of finger Heart murmur Hypoplasia of the radius Recurrent upper respiratory tract infections Aortic regurgitation Short phalanx of finger Fibular hypoplasia Abnormality of the ribs Postaxial hand polydactyly Postaxial polydactyly Hirsutism Talipes Hepatosplenomegaly Jaundice Talipes equinovarus Flexion contracture Short humerus Short tibia Hypogonadotrophic hypogonadism Alopecia Rhizomelia Abnormality of epiphysis morphology Type II diabetes mellitus Lumbar hyperlordosis Bilateral sensorineural hearing impairment Waddling gait Micromelia Platyspondyly Arthritis Delayed skeletal maturation Dysostosis multiplex Intellectual disability, mild Valgus hand deformity Aplasia/Hypoplasia of metatarsal bones Acromesomelia Short digit Aplasia/Hypoplasia involving the metacarpal bones Pes valgus Aplasia/Hypoplasia of the patella Short 1st metacarpal Short femur Spatulate ribs Renal insufficiency Hypotrichosis Osteolytic defects of the phalanges of the hand Basilar impression Flank pain Absent frontal sinuses Rough bone trabeculation Biconcave vertebral bodies Respiratory arrest Platybasia Decreased skull ossification Mitral stenosis Periodontitis Basilar invagination Multiple renal cysts Patellar dislocation Syringomyelia Prominent occiput Delayed cranial suture closure Glomerulonephritis Abnormality of the voice Polycystic kidney dysplasia Coarse hair Premature loss of permanent teeth Hypoplastic 5th lumbar vertebrae Osteolysis Camptodactyly Abnormality of the cerebral white matter Spastic paraplegia Hip dislocation Finger syndactyly Camptodactyly of finger Blepharophimosis Sparse hair Abnormality of the pinna Abnormality of the eye Abnormality of the nervous system Partial absence of toe Glaucoma Arrhythmia Microphthalmia Syndactyly Blindness Atrial septal defect Hyperreflexia Ptosis Spasticity Osteolytic defects of the phalanges of the toes Arnold-Chiari malformation Wormian bones Dyskinesia Exocrine pancreatic insufficiency Long philtrum Splenomegaly Hydrocephalus Downslanted palpebral fissures Macrocephaly Hepatomegaly Subcutaneous calcification Shortening of all distal phalanges of the fingers Parathyroid hyperplasia Congenital hypothyroidism Recurrent infections Short finger Subcutaneous nodule Diarrhea Involuntary movements Cortical subperiosteal resorption of humeral metaphyses Increased bone density with cystic changes Diaphyseal sclerosis Ectopic calcification Hyperparathyroidism Headache Hypospadias Generalized hirsutism Downturned corners of mouth Low anterior hairline Aortic valve stenosis Bone pain Thickened skin Bowing of the long bones Dental malocclusion Intestinal malrotation Recurrent fractures Hematuria Iris coloboma Patent ductus arteriosus Wide nose Thick eyebrow Thin vermilion border Joint hypermobility Dolichocephaly Respiratory tract infection Telecanthus Coarse facial features Narrow mouth Recurrent respiratory infections Distal upper limb amyotrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Behavioral abnormality, related diseases and genetic alterations Motor delay and Cerebral calcification, related diseases and genetic alterations

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