Brachydactyly, and Spinal muscular atrophy

Diseases related with Brachydactyly and Spinal muscular atrophy

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


Top matches:

Low match FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

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 MOEBIUS SYNDROME


Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MOEBIUS SYNDROME

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Other less relevant matches:

Low match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

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 DUANE RETRACTION SYNDROME


Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.

DUANE RETRACTION SYNDROME Is also known as stilling-turk-duane syndrome|duane syndrome|durs|drs

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE RETRACTION SYNDROME

Low match CAREY-FINEMAN-ZITER SYNDROME


Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

CAREY-FINEMAN-ZITER SYNDROME Is also known as myopathy-moebius-robin syndrome|myopathy, congenital nonprogressive, with moebius sequence and robin sequence

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CAREY-FINEMAN-ZITER SYNDROME

Low match INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Low match ANAUXETIC DYSPLASIA


Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (OMIM ).

ANAUXETIC DYSPLASIA Is also known as spondyloepimetaphyseal dysplasia, menger type|spondyloepimetaphyseal dysplasia, anauxetic type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANAUXETIC DYSPLASIA

Low match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Spinal muscular atrophy

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Spinal muscular atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Motor delay Epicanthus Macrocephaly Seizures Scoliosis Growth delay Talipes equinovarus Dysphagia Global developmental delay High palate Generalized hypotonia Depressed nasal bridge Spasticity Muscle weakness Absent speech Relative macrocephaly Pes cavus Hyperreflexia Behavioral abnormality Babinski sign Cerebellar vermis atrophy Gait ataxia Mandibular prognathia Spastic paraplegia Cryptorchidism Paraplegia Delayed speech and language development Hypertelorism Hearing impairment Short foot Midface retrusion Muscular hypotonia Strabismus Ptosis Macroglossia Anteverted nares Cleft palate Downslanted palpebral fissures Flexion contracture Short neck

Rare Symptoms - Less than 30% cases


Kyphoscoliosis Intellectual disability, severe Impaired vibratory sensation Hammertoe Cognitive impairment Hydronephrosis Facial palsy Autism Clinodactyly of the 5th finger Camptodactyly Lower limb spasticity Cone-shaped epiphysis Failure to thrive Progressive spastic paraplegia Aplasia/Hypoplasia of the thumb Intellectual disability, mild Large hands Aplasia of the pectoralis major muscle Aplasia/Hypoplasia of the tongue Cranial nerve paralysis Ophthalmoplegia Acanthosis nigricans Joint hypermobility Cubitus valgus Prominent nose Multiple cafe-au-lait spots Joint laxity Intention tremor Dysmetria Hyperhidrosis Lumbar hyperlordosis Camptodactyly of finger Blepharophimosis Impaired ocular abduction Short palm Distal lower limb amyotrophy Obesity Oculomotor nerve palsy Accelerated skeletal maturation Short thumb Tapered finger Plagiocephaly Intellectual disability, moderate Delayed puberty Hyperlordosis Decreased testicular size Interphalangeal joint contracture of finger Skeletal dysplasia Severe short stature Delayed skeletal maturation Frontal bossing Gait disturbance Restlessness Mood swings Everted lower lip vermilion Aggressive behavior Macrotia Pectus excavatum Abnormal cerebellum morphology Clinodactyly Distal amyotrophy Falls Hypospadias Kyphosis Abnormality of the foot Micropenis EEG abnormality Difficulty walking Cerebellar atrophy Ventriculomegaly Abnormality of the skeletal system Dysarthria Deeply set eye Nystagmus Hypoplasia of the corpus callosum Abnormality of the larynx Laryngeal stenosis Pectoralis hypoplasia Congenital facial diplegia Hypoplasia of the musculature Nocturnal hypoventilation Abnormality of the dentition Glandular hypospadias Ulnar deviation of the hand Hypertensive crisis Decreased fetal movement Villous atrophy Impaired ocular adduction Short nose Myopathy Atrial septal defect Respiratory distress Respiratory insufficiency Hypertension Feeding difficulties Patchy hypopigmentation of hair Palpebral fissure narrowing on adduction Central heterochromia Narrow internal auditory canal Elevated serum creatine phosphokinase Hypoplastic iris stroma Abnormal vertebral segmentation and fusion Anorectal anomaly Optic disc hypoplasia Abnormal pupil morphology Blepharospasm Stenosis of the external auditory canal External ear malformation Aniridia Irregular hyperpigmentation Long philtrum Pneumonia Flushing Aplasia/Hypoplasia of the cerebellum Trismus Facial diplegia Microglossia Pierre-Robin sequence Ankylosis Glossoptosis Hypoventilation Ulnar deviation of finger Restrictive ventilatory defect Bilateral talipes equinovarus Hypoplasia of the brainstem Polyhydramnios Severe muscular hypotonia Heterotopia Abnormal lung morphology Cerebral calcification Broad nasal tip Thin vermilion border Talipes Abnormal cardiac septum morphology Paralysis Retrognathia Gastroesophageal reflux Diabetes mellitus Ketoacidosis Hyperkeratosis Short philtrum Memory impairment Small hand Polymicrogyria Bulbous nose Joint hyperflexibility Toe syndactyly Synophrys Neurological speech impairment Wide mouth Thick lower lip vermilion Abnormality of the pinna Pes planus Coarse facial features High forehead Hyperactivity Hypogonadism Inguinal hernia Immunodeficiency Hypertonia Hypoplasia of penis Broad-based gait Intrauterine growth retardation Scaphocephaly Moderately short stature Small earlobe Abnormality of earlobe Abdominal obesity Panhypopituitarism Tics Abnormal hair pattern Down-sloping shoulders Striae distensae Gynecomastia Biparietal narrowing Abnormality of the musculature Truncal obesity Cortical gyral simplification Cortical dysplasia Open bite Cachexia Sandal gap Narrow palpebral fissure Tremor Cervical spine instability Carious teeth Hyperinsulinemia Menstrual irregularities Macroorchidism Prolactin excess Ectopic kidney Growth hormone excess Insulin-resistant diabetes mellitus Generalized hyperpigmentation Increased number of teeth Polycystic ovaries Sparse hair Generalized hirsutism Insulin resistance Subcutaneous nodule Hypertrichosis Epidermal acanthosis Type II diabetes mellitus Narrow forehead Muscle cramps Hirsutism Generalized hypertrichosis Hypodontia Hypoplastic iliac body Broad ribs Hypoplasia of the femoral head Increased vertebral height Thoracolumbar kyphoscoliosis Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Shield chest Spondyloepimetaphyseal dysplasia Hypoplastic ilia Ovoid vertebral bodies Nail dysplasia Thoracolumbar scoliosis Metaphyseal dysplasia Short femoral neck Metaphyseal irregularity Coxa vara Coxa valga Elbow flexion contracture Small nail Limb undergrowth Absent radius Hallucinations Preaxial hand polydactyly Scanning speech 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 Decreased number of large peripheral myelinated nerve fibers Hypermyelinated retinal nerve fibers Spastic ataxia Upper motor neuron dysfunction Absent Achilles reflex Demyelinating peripheral neuropathy Impaired smooth pursuit Progressive gait ataxia Arachnoid cyst Impaired vibration sensation in the lower limbs Abnormal motor evoked potentials Abnormality of the cerebellar peduncle Urinary urgency Reduced number of teeth Absent hand Breast aplasia Abnormality of the ulna Blepharitis Aplasia/Hypoplasia of the radius Mask-like facies Abnormality of the voice Hypogonadotrophic hypogonadism Progressive truncal ataxia Open mouth Microdontia Arthrogryposis multiplex congenita Corneal opacity Finger syndactyly Feeding difficulties in infancy Visual impairment Swan neck-like deformities of the fingers Progressive spasticity Impotence Aplasia/Hypoplasia involving the metacarpal bones Broad hallux Abnormality of the knee Abnormality of tibia morphology Exostoses Joint swelling Proportionate short stature Disproportionate short stature Limited elbow extension Mild short stature Osteochondritis Dissecans Back pain Growth abnormality Osteoarthritis Waddling gait Joint stiffness Arthritis Arthralgia Pain Low back pain Decreased hip abduction Decreased motor nerve conduction velocity Distal sensory impairment Decreased nerve conduction velocity Absence seizures Foot dorsiflexor weakness Sensorimotor neuropathy Cerebellar vermis hypoplasia Mitral valve prolapse Urinary incontinence Progressive cerebellar ataxia Peripheral axonal neuropathy Limited elbow flexion Unsteady gait Abnormal pyramidal sign Distal muscle weakness Myoclonus Peripheral neuropathy Ataxia Abnormality of skeletal physiology Quadriceps muscle atrophy Abnormality of the sense of smell Myopia Congenital sensorineural hearing impairment Overbite Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Upper limb spasticity Hyperextensible hand joints Speech apraxia Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Scleroderma Morphea Hyperplasia of midface Spastic diplegia Abnormal form of the vertebral bodies Chorioretinal coloboma Triphalangeal thumb Hypoplasia of the radius Hypopigmented skin patches Spina bifida occulta Preauricular skin tag Amblyopia Short palpebral fissure Sensorineural hearing impairment Low posterior hairline Webbed neck Microcornea Iris coloboma Facial asymmetry Abnormality of eye movement Abnormality of cardiovascular system morphology Wide nasal bridge Ankle clonus Emotional lability Upslanted palpebral fissure Decreased body weight Alopecia areata Diastema Furrowed tongue Shuffling gait Facial hypotonia Lower limb hyperreflexia Intellectual disability, progressive Hypoplasia of the maxilla Low frustration tolerance High, narrow palate Short distal phalanx of finger Smooth philtrum Poor speech Hypermetropia Prominent nasal bridge Protruding ear Thin upper lip vermilion Lower limb hypertonia Small forehead Abnormality of the hand Psychosis Slurred speech Drooling Spastic paraparesis Hoarse voice Clonus Spastic gait Progressive muscle weakness Choreoathetosis Overgrowth Talipes calcaneovarus Specific learning disability Gliosis Sleep disturbance Lower limb muscle weakness Genu valgum Anxiety Constipation Low-set ears Abnormality of toe



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