Brachydactyly, and Neurodegeneration

Diseases related with Brachydactyly and Neurodegeneration

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


Top matches:

Low match ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match CHOROID PLEXUS CARCINOMA


Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.

CHOROID PLEXUS CARCINOMA Is also known as sgs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOROID PLEXUS CARCINOMA

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Other less relevant matches:

Low match KURU, SUSCEPTIBILITY TO


Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by Wadsworth et al., 2008).

Related symptoms:

  • Ataxia
  • Mental deterioration
  • Abnormality of eye movement
  • Unsteady gait
  • Neurodegeneration


SOURCES: OMIM MENDELIAN

More info about KURU, SUSCEPTIBILITY TO

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C


Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (OMIM ) and CDG2A (OMIM ).The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996).Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (OMIM ) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic|rhs|lad2|cdg iic|rambam-hasharon syndrome|leukocyte adhesion deficiency, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C

Low match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Low match INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Low match AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY


Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.

AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY Is also known as autosomal recessive spastic ataxia type 6|charlevoix-saguenay spastic ataxia|autosomal recessive spastic ataxia of charlevoix-saguenay|spax6|spastic ataxia 6, autosomal recessive|arsacs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

Low match 5Q14.3 MICRODELETION SYNDROME


The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE


Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE Is also known as semd, x-linked, with mental deterioration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Neurodegeneration

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Hypoplasia of the corpus callosum Midface retrusion Abnormal facial shape Depressed nasal bridge Low-set ears Cerebral atrophy Abnormality of the skeletal system Malar flattening Coarse facial features Anteverted nares Scoliosis Generalized hypotonia Ataxia Intellectual disability, severe Downslanted palpebral fissures Camptodactyly Autism Babinski sign Short distal phalanx of finger High forehead Spasticity Dilatation Nystagmus Macrocephaly Short nose

Rare Symptoms - Less than 30% cases


Delayed speech and language development High palate Intellectual disability, mild Behavioral abnormality Thick eyebrow Motor delay Dysarthria Absence seizures Hypertrichosis Cerebellar atrophy Myoclonus Progressive gait ataxia Skeletal muscle atrophy Peripheral neuropathy Flexion contracture Ptosis EEG abnormality Broad face Plagiocephaly Otitis media Macroglossia Short neck Downturned corners of mouth Distal amyotrophy Prominent forehead Congenital cataract Broad forehead Sparse scalp hair Autistic behavior Abnormal pyramidal sign Protruding ear Deeply set eye Inability to walk Ventriculomegaly Macrotia Hypothyroidism Narrow mouth Talipes equinovarus Gait ataxia Brachycephaly Pes cavus Absent speech Cataract Growth delay Neoplasm Recurrent infections Genu valgum Paralysis Intellectual disability, progressive Hepatosplenomegaly Mandibular prognathia Febrile seizures Pneumonia Short foot Abnormality of the dentition Epicanthus Cerebral cortical atrophy Hydrocephalus Unsteady gait Microcephaly Muscular hypotonia Anemia Muscle weakness Strabismus Micrognathia Sensorineural hearing impairment Thoracic kyphosis Long philtrum Wormian bones Broad philtrum Infantile spasms Shallow orbits Radioulnar synostosis Upslanted palpebral fissure Arachnoid cyst Tented upper lip vermilion Short palpebral fissure Mild short stature Tapered finger Apraxia Neuronal loss in central nervous system Relative macrocephaly Anxiety Dental crowding Hyperreflexia Wide nasal base Delayed cranial suture closure Craniofacial asymmetry Pericarditis Dysphagia Difficulty walking Arnold-Chiari type I malformation Distal muscle weakness Spastic paraplegia Abnormality of the foot Paraplegia Dysmetria Peripheral axonal neuropathy Severe global developmental delay Flat face Bulbous nose Periodontitis Hyporeflexia Cerebellar hypoplasia Wide nasal bridge Posteriorly rotated ears Reduction of neutrophil motility Abnormality of the integument Neutrophilia Bronchiolitis Widow's peak Kyphoscoliosis Echolalia Mild global developmental delay Cellulitis Clinodactyly Leukocytosis Thin upper lip vermilion Broad eyebrow Microtia Abnormality of the cerebral white matter Nail dystrophy Recurrent otitis media Talipes Smooth philtrum Thin vermilion border Thick vermilion border Delayed eruption of teeth Obsessive-compulsive behavior Upper motor neuron dysfunction Falls Large earlobe Delayed skeletal maturation Periventricular white matter hyperdensities Frontal cortical atrophy Hemiclonic seizures Happy demeanor Abnormality of nervous system morphology Abnormal corpus callosum morphology Periventricular leukomalacia Agenesis of cerebellar vermis Abnormality of the periventricular white matter Broad nasal tip Poor eye contact Cupped ear Optic nerve hypoplasia Short chin Stereotypy Heterotopia Broad-based gait Open mouth Epileptic encephalopathy Platyspondyly Delayed myelination Generalized myoclonic seizures Delayed CNS myelination Cone-shaped capital femoral epiphysis Widened subarachnoid space Metaphyseal cupping of metacarpals Anterior rib cupping Prominent sternum Subcortical cerebral atrophy Flattened epiphysis Small epiphyses Flared iliac wings Spondyloepimetaphyseal dysplasia Optic disc pallor Broad foot Hypoplasia of the odontoid process Thin ribs Broad palm Short finger Short femoral neck Metaphyseal widening Coxa vara Low anterior hairline Abnormality of the face Convex nasal ridge Everted lower lip vermilion Distal sensory impairment Impaired vibratory sensation Impaired smooth pursuit Impaired vibration sensation in the lower limbs Cerebellar vermis atrophy Progressive spastic paraplegia Progressive spasticity Urinary urgency Impotence Decreased motor nerve conduction velocity Hammertoe Cone-shaped epiphysis Absent Achilles reflex Decreased nerve conduction velocity Foot dorsiflexor weakness Sensorimotor neuropathy Lower limb spasticity Intention tremor Cerebellar vermis hypoplasia Mitral valve prolapse Urinary incontinence Progressive cerebellar ataxia Abnormal cerebellum morphology Demyelinating peripheral neuropathy Spastic ataxia Iris coloboma Progressive truncal ataxia Toe syndactyly Generalized tonic-clonic seizures Short philtrum Attention deficit hyperactivity disorder Coloboma Hyperactivity Encephalopathy Feeding difficulties Swan neck-like deformities of the fingers Abnormality of the cerebellar peduncle Severe short stature Hypermyelinated retinal nerve fibers Abnormal motor evoked potentials Abnormality of the pons Parietal cortical atrophy Loss of Purkinje cells in the cerebellar vermis Impaired tactile sensation Vitamin E deficiency Decreased sensory nerve conduction velocity Gaze-evoked horizontal nystagmus Scanning speech Decreased number of large peripheral myelinated nerve fibers Tricuspid regurgitation Abnormality of metabolism/homeostasis Pectus excavatum Aggressive behavior Conductive hearing impairment Osteopenia Diabetes mellitus Hypogonadism Osteoporosis Agenesis of corpus callosum Areflexia Microphthalmia Prominent nasal bridge Kyphosis Hypertonia Myopathy Gait disturbance Cryptorchidism Abnormality of the vertebral endplates Mandibular osteomyelitis Tooth abscess Developmental regression Synophrys Abnormal leukocyte morphology Clonus Self-injurious behavior Schizophrenia Abnormal palate morphology Osteolysis Spastic paraparesis Knee flexion contracture Paraparesis Hypergonadotropic hypogonadism Gynecomastia Narrow chest Thickened skin Abnormal form of the vertebral bodies Thick lower lip vermilion Bradykinesia Cerebral calcification Hip dysplasia Nevus Hypoplasia of the maxilla Elevated serum acid phosphatase Lumbar scoliosis Bilateral cryptorchidism Arthritis Recurrent urinary tract infections Abnormality of the metaphysis Osteoarthritis Pancytopenia Ectodermal dysplasia Recurrent fractures Carious teeth Facial palsy Proptosis Lymphedema Visual loss Thrombocytopenia Immunodeficiency Blindness Edema Frontal bossing Optic atrophy Visual impairment Abnormality of epiphysis morphology Bone pain Cranial hyperostosis Rhinitis Hip osteoarthritis Fractures of the long bones Extramedullary hematopoiesis Generalized osteosclerosis Facial paralysis Abnormal cranial nerve morphology Osteopetrosis Aseptic necrosis Osteomyelitis Increased bone mineral density Hyperostosis Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Cranial nerve paralysis Joint dislocation Hypocalcemia Bone marrow hypocellularity Melanocytic nevus Metatarsus adductus Abnormality of eye movement Tibial bowing Short sternum Bicornuate uterus Short 1st metacarpal Broad ribs Hypoplastic labia majora Choanal stenosis Vocal cord paralysis Hypoplastic nipples Opisthotonus Long clavicles Hydroureter Diabetes insipidus Scrotal hypoplasia Telangiectasia Abnormality of the genital system Progressive neurologic deterioration Hypsarrhythmia Sloping forehead Alacrima Wide cranial sutures Sensory impairment Facial hemangioma Mental deterioration Wide distal femoral metaphysis Increased density of long bones Aplasia/Hypoplasia of the pubic bone Metopic suture patent to nasal root Primitive neuroectodermal tumor Hypoplasia of first ribs Sacrococcygeal teratoma Thickened cortex of long bones Sclerosis of skull base Hypoplastic labia minora Ureteral stenosis Embryonal neoplasm Widely patent fontanelles and sutures Hepatoblastoma Hyperconvex nail Abnormality of the nasopharynx Teratoma Postaxial hand polydactyly Single transverse palmar crease Anonychia Insulin-resistant diabetes mellitus Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Poor coordination Irregular vertebral endplates Restlessness Abnormal glucose tolerance Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Mixed hearing impairment Truncal obesity Narrow iliac wings Posterior polar cataract Hepatic steatosis Atrial septal defect Confusion Postnatal growth retardation Hydronephrosis Micropenis Abnormal heart morphology Hypospadias Abnormality of cardiovascular system morphology Syndactyly Failure to thrive Absent axillary hair Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Peg-like central prominence of distal tibial metaphyses



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

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