Brachydactyly, and Gliosis

Diseases related with Brachydactyly and Gliosis

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


Top matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Low match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Low match LAURIN-SANDROW SYNDROME


Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

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Other less relevant matches:

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low match FRYNS SYNDROME


Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

FRYNS SYNDROME Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRYNS SYNDROME

Low match ATYPICAL RETT SYNDROME


Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

ATYPICAL RETT SYNDROME Is also known as atypical rtt|rett syndrome variant|autism, dementia, ataxia, and loss of purposeful hand use|rts

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL RETT SYNDROME

Low match ANAPLASTIC OLIGOASTROCYTOMA


Anaplastic oligoastrocytoma is a rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis.

ANAPLASTIC OLIGOASTROCYTOMA Is also known as amoa

Related symptoms:

  • Seizures
  • Neoplasm
  • Headache
  • Brain neoplasm
  • Glioma


SOURCES: ORPHANET MENDELIAN

More info about ANAPLASTIC OLIGOASTROCYTOMA

Low match HOT WATER REFLEX EPILEPSY


Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.

HOT WATER REFLEX EPILEPSY Is also known as bathing epilepsy|water immersion epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Abnormality of the nervous system


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOT WATER REFLEX EPILEPSY

Top 5 symptoms//phenotypes associated to Brachydactyly and Gliosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Hydrocephalus Spasticity Macrocephaly Atrial septal defect Dilatation Short foot Abnormality of the nervous system Hearing impairment Coarse facial features Flexion contracture Scoliosis Low-set ears Ventriculomegaly Cryptorchidism Long philtrum Postaxial polydactyly Ataxia Short distal phalanx of finger Muscular hypotonia High palate Cerebral cortical atrophy Small nail Wide mouth Cleft palate Strabismus Muscular hypotonia of the trunk Cerebellar hypoplasia Syndactyly Neoplasm Overgrowth Microphthalmia Delayed speech and language development Downslanted palpebral fissures Anteverted nares Pectus excavatum Skeletal muscle atrophy Epicanthus Motor delay Frontal bossing Intellectual disability, mild Abnormality of the skeletal system Kyphoscoliosis Retrognathia Growth delay Short stature

Rare Symptoms - Less than 30% cases


Cerebral palsy Cutis marmorata Narrow palpebral fissure Headache Kyphosis Autism Narrow mouth Clinodactyly of the 5th finger Limb undergrowth Wide intermamillary distance Single transverse palmar crease Generalized-onset seizure Polymicrogyria Palmoplantar keratoderma Intellectual disability, profound Agenesis of corpus callosum Gastroesophageal reflux Exotropia Vesicoureteral reflux Melanocytic nevus Postnatal microcephaly Wide nasal bridge Aplasia cutis congenita of scalp Overweight Pain Abnormality of the dentition Skin tags EEG abnormality Brain neoplasm Carcinoma Astrocytoma Hamartomatous polyposis Cleft lip Fibroma Developmental stagnation Thoracic scoliosis Ovarian carcinoma Short distal phalanx of the thumb Tremor Hand polydactyly Abnormality of the metacarpal bones Abnormality of the face Heterotopia Depressed nasal ridge Underdeveloped nasal alae Large for gestational age Downturned corners of mouth Polydactyly Papule Hypospadias Multicystic kidney dysplasia Cutis marmorata telangiectatica congenita Cataract Cleft upper lip Posteriorly rotated ears Cerebral atrophy Anxiety Encephalopathy Short neck Drooling Spastic paraparesis Prominent nose Abnormal cerebellum morphology Joint hypermobility Ovarian cyst Camptodactyly Hydronephrosis Myoclonus Gait ataxia Constipation Clinodactyly Cerebellar atrophy Dysarthria Hyperreflexia Cognitive impairment Muscle weakness Failure to thrive Cystic hygroma Neoplasm of the skin Polyhydramnios Abnormality of the eye Depressed nasal bridge Apnea Wide nose Hypoplasia of the corpus callosum Developmental regression Acrokeratosis Abnormality of the pons Hemolytic anemia Endometrial carcinoma Neuronal loss in central nervous system Neoplasm of the thyroid gland Colorectal polyposis Microdontia Ichthyosis Birth length greater than 97th percentile Mucosal telangiectasiae Cirrhosis Alveolar ridge overgrowth Triangular mouth Ventricular septal defect Hepatic failure Transitional cell carcinoma of the bladder Progressive macrocephaly Pseudopapilledema Olfactory lobe agenesis Follicular thyroid carcinoma Respiratory distress Generalized myoclonic seizures Corneal opacity Broad forehead Abnormal cardiac septum morphology Webbed neck Blepharophimosis Low-set, posteriorly rotated ears Thin upper lip vermilion Sepsis Severe global developmental delay Micronodular cirrhosis Intestinal polyp Areflexia Epileptic encephalopathy Thyroid adenoma Hernia Abnormality of cardiovascular system morphology Varicocele Blindness Edema Fibroadenoma of the breast Hemoglobinuria Duplicated collecting system Cerebral visual impairment Overfolded helix Scaling skin Redundant skin Elevated alkaline phosphatase Deep philtrum Widely spaced teeth Short nose Malar flattening Absent speech Obesity Anemia Gingival overgrowth Inflammatory abnormality of the skin Patent ductus arteriosus Pneumonia Tall stature Neonatal hypotonia Upslanted palpebral fissure Respiratory failure Large fontanelles Hepatomegaly Hypsarrhythmia Micropenis Dysplastic gangliocytoma of the cerebellum Seborrheic dermatitis Abnormality of eye movement Stroke Breech presentation Enlarged cerebellum High anterior hairline Trichilemmoma Cardiorespiratory arrest Pierre-Robin sequence Conjunctival hamartoma Abnormal facial shape Delayed myelination Central hypotonia Absent septum pellucidum Ductal carcinoma in situ Infantile spasms Merkel cell skin cancer Prominent occiput Multiple trichilemmomata Lobular carcinoma in situ Epileptic spasms Hydroureter Narrow chest Hyperactivity Apraxia Thick vermilion border Inability to walk Confusion Abnormality of movement Muscular dystrophy Attention deficit hyperactivity disorder Camptodactyly of finger Paralysis Autistic behavior Mental deterioration Aggressive behavior Rigidity Dementia Progressive neurologic deterioration Dystonia Intellectual disability, severe Hypoplasia of the optic tract Ectopic pancreatic tissue Absent left hemidiaphragm Postaxial oligodactyly Hypoplasia of olfactory tract Facial hirsutism Abnormal aortic arch morphology Broad clavicles Urethral stricture Bilateral choanal atresia Abnormality of the diaphragm Prominent fingertip pads Fine hair Nephrolithiasis Meckel diverticulum Esodeviation Drowsiness Cyanosis Febrile seizures Generalized tonic-clonic seizures Pallor Glioma Gait apraxia Hypocapnia Nonprogressive encephalopathy Intermittent hyperventilation Abnormality of the antitragus Respiratory alkalosis Abnormal muscle tone Prolonged QTc interval Abnormal T-wave Truncal ataxia Astrocytosis Motor deterioration Alkalosis Bruxism Hyperventilation Progressive encephalopathy Loss of speech Prolonged QT interval Alzheimer disease Aplasia/Hypoplasia of the cerebellum Cachexia Accelerated skeletal maturation Abnormality of the fingernails Paraparesis Gastroparesis Shortening of all distal phalanges of the fingers Anal atresia Joint contracture of the hand Thoracic hypoplasia Abnormality of the penis Anonychia Rocker bottom foot Anophthalmia Bifid scrotum Proximal placement of thumb Pterygium Tented upper lip vermilion Abnormality of the genitourinary system Abnormality of the outer ear Microretrognathia Opacification of the corneal stroma Finger clinodactyly Short thumb Non-midline cleft lip Amblyopia Renal dysplasia Aganglionic megacolon Omphalocele Choanal atresia Coarctation of aorta Congenital diaphragmatic hernia Tetralogy of Fallot Dandy-Walker malformation Renal agenesis Premature birth Intestinal malrotation Renal cyst Pulmonary hypoplasia Hypoplasia of the uterus Partial agenesis of the corpus callosum Gastroschisis Ectopic anus Arrhinencephaly Chylothorax Abnormal aortic morphology Absent nipple Interrupted aortic arch Ureteral duplication Bifid nose Cystic renal dysplasia Aplasia/Hypoplasia of the nipples Abnormality of the helix Bicornuate uterus Broad ribs Hypoplastic fingernail Duodenal atresia Asplenia Thin ribs Abnormality of finger Retinal dysplasia Bilateral cleft lip and palate Polysplenia Truncus arteriosus Bilateral cleft lip Thickened nuchal skin fold Broad neck Median cleft lip Esophageal atresia Shawl scrotum Oligodactyly Atrophy/Degeneration affecting the brainstem Hypoplastic nipples Angioid streaks of the fundus Decreased antibody level in blood Subcutaneous lipoma Adactyly Preaxial hand polydactyly Triphalangeal thumb Preaxial polydactyly Aplasia/Hypoplasia of the corpus callosum Limitation of joint mobility Thin vermilion border Talipes Toe syndactyly Finger syndactyly Prominent forehead Talipes equinovarus Retinal nonattachment High-pitched cry Hallux valgus Retrocerebellar cyst Retinal fold Periventricular leukomalacia Corpus callosum atrophy Aplasia cutis congenita Short finger Dermal atrophy Low anterior hairline Lymphedema Wide anterior fontanel Blue sclerae Oligohydramnios Retinal detachment Short middle phalanx of finger Tarsal synostosis Congenital cataract Brachycephaly Oral cleft Arachnodactyly Carious teeth Hypotrichosis Coloboma Sparse hair Facial palsy Telecanthus Proteinuria Mandibular prognathia Proptosis Glaucoma Abdominal pain Visual loss Aplasia/Hypoplasia of the thumb Mirror image polydactyly Fibular duplication Limb duplication Rudimentary to absent tibiae Premature atrial contractions Absent tibia Patellar aplasia Abnormality of the nose Preaxial foot polydactyly Abnormality of the wrist Short columella Broad foot Absent radius Bulbous nose Protruding ear Nevus Specific learning disability Impaired vibratory sensation Emotional lability Abnormality of the hand Slurred speech Hoarse voice Clonus Spastic gait Hallucinations Progressive muscle weakness Lower limb spasticity Choreoathetosis Psychosis Sleep disturbance Spastic diplegia Distal amyotrophy Dysmetria Lower limb muscle weakness Paraplegia Genu valgum Abnormality of the foot Spastic paraplegia Difficulty walking Pes cavus Babinski sign Midface retrusion Behavioral abnormality Dysphagia Hammertoe Ankle clonus Deeply set eye Knee clonus Alopecia Abnormal heart morphology Depressivity Hypertonia Optic atrophy Intrauterine growth retardation Visual impairment Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Panic attack Abnormal hand morphology Scleroderma Abnormality of brain morphology Abnormality of the nares Overbite Mood swings Upper limb spasticity Speech apraxia Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Cerebellar vermis atrophy Iris coloboma Hypotension Colonic diverticula Hemangioma Multiple lipomas Abnormality of the thyroid gland Macule Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Hypopigmented skin patches Increased intracranial pressure Cranial nerve paralysis Multiple cafe-au-lait spots Lymphopenia Gynecomastia Cafe-au-lait spot Chronic diarrhea Telangiectasia Subcutaneous nodule Broad thumb Intention tremor Lymphoma Macroglossia Hypoplasia of the maxilla Nausea and vomiting Leukemia Cellulitis Acute myeloid leukemia Intellectual disability, moderate Arteriovenous malformation Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Abnormality of the uterus Furrowed tongue Hydrocele testis Hamartoma Meningioma Megalencephaly Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Abnormality of the kidney Proximal muscle weakness Cerebral calcification Disproportionate tall stature Short 4th metacarpal Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Abnormality of the sternum Colitis Vertebral fusion Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Inflammation of the large intestine Neoplasm of the endocrine system Nephritis Glomerulonephritis Relative macrocephaly Spina bifida occulta Hemivertebrae Hypogonadotrophic hypogonadism Muscle stiffness Short ribs Spina bifida Bradycardia Hyperpigmentation of the skin Hemiparesis Abnormality of the ribs Abnormality of the neck Broad face Hypothyroidism Bifid ribs Recurrent infections Immunodeficiency Diarrhea Myopathy Myopia Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Curved fingers Ulcerative colitis Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Severe hydrocephalus Multiple impacted teeth Parietal bossing Vertebral wedging Abnormality of the sense of smell Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Generalized tonic-clonic seizures with focal onset



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