Brachydactyly, and Proximal muscle weakness

Diseases related with Brachydactyly and Proximal muscle weakness

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


Top matches:

Low match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

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 ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Low-set ears
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9

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Other less relevant matches:

Low match HEART-HAND SYNDROME, SLOVENIAN TYPE


Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.

HEART-HAND SYNDROME, SLOVENIAN TYPE Is also known as atriodigital dysplasia, slovenian type|cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Brachydactyly
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEART-HAND SYNDROME, SLOVENIAN TYPE

Low match SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE


Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).

SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE Is also known as sed, stanescu type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA


Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Low match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

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

Low match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Proximal muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Proximal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Clinodactyly Scoliosis Syndactyly Low-set ears Pain Seizures High palate Skeletal muscle atrophy Limb muscle weakness Arrhythmia Cleft palate Flexion contracture Clinodactyly of the 5th finger

Rare Symptoms - Less than 30% cases


Retrognathia Narrow mouth Neoplasm Cataract Hypertelorism Cognitive impairment Ataxia Proptosis Myopia Kyphosis Growth delay Autism Intention tremor Abnormality of the kidney Abnormal atrioventricular conduction Dysphagia Syncope Multiple cafe-au-lait spots Ventricular tachycardia Ventricular extrasystoles Dilated cardiomyopathy Abnormality of the foot Cranial nerve paralysis Hypoplasia of the maxilla Difficulty walking Joint stiffness Unsteady gait Thin vermilion border Intellectual disability Dolichocephaly Broad forehead Abnormal cerebellum morphology Generalized hypotonia Abnormality of the skeletal system Global developmental delay Calcinosis Cutis marmorata Abnormal heart morphology Ventricular hypertrophy Hypertension Increased body weight Abnormal cardiac septum morphology Ventricular septal defect Right ventricular hypertrophy Stroke Congestive heart failure Prominent superficial veins Right ventricular failure Breast aplasia Cavernous hemangioma Paralysis Cutis marmorata telangiectatica congenita Pulmonic stenosis Pulmonary artery atresia Interrupted aortic arch Absent eyebrow Breathing dysregulation Hyperglycemia Hyperostosis Preauricular pit Truncus arteriosus Underdeveloped supraorbital ridges Focal segmental glomerulosclerosis Double outlet right ventricle Glucose intolerance Polycythemia Hyperventilation Poor appetite High pitched voice Absence of the pulmonary valve Abnormal nasal morphology Behavioral abnormality Dysmetria Paraplegia Spastic paraplegia Abnormal pyramidal sign Distal muscle weakness EEG abnormality Gait ataxia Myoclonus Pes cavus Babinski sign Cerebellar atrophy Endocarditis Hypoplasia of the corpus callosum Dysarthria Hyperreflexia Peripheral neuropathy Spasticity Nystagmus Clubbing Tetralogy of Fallot with absent pulmonary valve Pulmonary valve atresia Overriding aorta Heart murmur Reduced subcutaneous adipose tissue Delayed cranial suture closure Aplasia/Hypoplasia of the clavicles Progressive clavicular acroosteolysis Increased facial adipose tissue Falls Osteolytic defects of the phalanges of the hand Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Increased adipose tissue around the neck Osteolytic defects of the distal phalanges of the hand Progeroid facial appearance Limb-girdle muscle atrophy Vertebral compression fractures Hypoplasia of teeth Broad distal phalanx of finger Narrow nasal ridge Generalized lipodystrophy Wide cranial sutures Hematemesis Loss of subcutaneous adipose tissue in limbs Mottled pigmentation Foamy urine Down-sloping shoulders Hypermelanotic macule Respiratory tract infection Easy fatigability Sinusitis Bird-like facies Hemiparesis Tetralogy of Fallot Cyanosis Spinal rigidity Prematurely aged appearance Arthropathy Short clavicles Dyspnea Stiff elbow Premature loss of teeth Recurrent respiratory infections Insulin-resistant diabetes mellitus Patent ductus arteriosus Abnormality of cardiovascular system morphology Respiratory distress Intrauterine growth retardation Narrow nose Anemia Cryptorchidism Peripheral axonal neuropathy Impaired smooth pursuit Distal amyotrophy Bulbous nose Hypoplasia of dental enamel Palpitations Specific learning disability Febrile seizures Short metacarpal Sudden cardiac death Broad nasal tip Triangular face Small hand High, narrow palate Wide nose Short palm Toe syndactyly Cardiac arrest Joint laxity Thin upper lip vermilion Elevated serum creatine phosphokinase Depressivity Malar flattening Abnormal facial shape Aplasia of the pectoralis major muscle Aplasia/Hypoplasia of the tongue Aplasia/Hypoplasia involving the metacarpal bones Abnormality of the sense of smell Absent hand Abnormality of the ulna Short phalanx of finger Bilateral single transverse palmar creases Aplasia/Hypoplasia of the radius Abnormal T-wave Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Short mandibular rami Short digit Clinodactyly of the 5th toe First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Torsade de pointes Scapular winging T-wave inversion Left bundle branch block Short finger Prolonged QT interval Right bundle branch block 2-3 toe syndactyly Myotonia Short metatarsal Growth abnormality Ventricular arrhythmia Oligodontia Reduced tendon reflexes Abnormal palate morphology Blepharitis Aplasia/Hypoplasia of the thumb Distal sensory impairment Urinary urgency Decreased number of large peripheral myelinated nerve fibers Spastic ataxia Upper motor neuron dysfunction Absent Achilles reflex Demyelinating peripheral neuropathy Glomerulosclerosis Progressive gait ataxia Arachnoid cyst Impaired vibration sensation in the lower limbs Cerebellar vermis atrophy Progressive spastic paraplegia Progressive spasticity Impotence Gaze-evoked horizontal nystagmus Decreased motor nerve conduction velocity Hammertoe Impaired vibratory sensation Cone-shaped epiphysis Decreased nerve conduction velocity Absence seizures Foot dorsiflexor weakness Sensorimotor neuropathy Lower limb spasticity Cerebellar vermis hypoplasia Mitral valve prolapse Urinary incontinence Progressive cerebellar ataxia Scanning speech Decreased sensory nerve conduction velocity Mask-like facies Talipes equinovarus Abnormality of the voice Reduced number of teeth Hypogonadotrophic hypogonadism Open mouth Microdontia Everted lower lip vermilion Ophthalmoplegia Arthrogryposis multiplex congenita Corneal opacity Finger syndactyly Feeding difficulties in infancy Facial palsy Epicanthus Vitamin E deficiency Visual impairment Ptosis Muscular hypotonia Strabismus Swan neck-like deformities of the fingers Progressive truncal ataxia Abnormality of the cerebellar peduncle 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 Congenital muscular dystrophy Postnatal growth retardation Hyperinsulinemia Lymphopenia Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Hypopigmented skin patches Increased intracranial pressure Hemangioma Drooling Neoplasm of the skin Gynecomastia Hand polydactyly Cafe-au-lait spot Exotropia Chronic diarrhea Telangiectasia Subcutaneous nodule Broad thumb Overgrowth Decreased antibody level in blood Lymphoma Macroglossia Palmoplantar keratoderma Intracranial hemorrhage Melanocytic nevus Joint hypermobility Scaphocephaly Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Hashimoto thyroiditis Macule Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Acute myeloid leukemia Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Polymicrogyria Nausea and vomiting Ovarian cyst Coarctation of aorta Progressive proximal muscle weakness Oligodactyly Aplasia cutis congenita Spastic diplegia Abnormality of the coagulation cascade Portal hypertension Patent foramen ovale Ischemic stroke Hyperammonemia Small nail Pulmonary arterial hypertension Hip dysplasia Esophageal varix Ascites Hepatic failure Abnormality of the cerebral white matter Severe global developmental delay Attention deficit hyperactivity disorder Umbilical hernia Hyperactivity Inguinal hernia Encephalopathy Hernia Splenomegaly Dystrophic toenail Aplasia cutis congenita of scalp Papule Atrial septal defect Leukemia Intellectual disability, moderate Carcinoma Hypothyroidism Pectus excavatum Recurrent infections Dilatation Headache Immunodeficiency Intellectual disability, mild Diarrhea Hydrocephalus Hypersplenism Frontal bossing Tremor Downslanted palpebral fissures Macrocephaly Delayed speech and language development Failure to thrive Right atrial enlargement Calcinosis cutis Chronic hepatic failure Prominent scalp veins Portal vein thrombosis Astrocytoma Intestinal polyposis Lipodystrophy Mild myopia Scarring Sparse hair Rigidity Hyperkeratosis Diabetes mellitus Osteoporosis Alopecia Hypospadias Short nose Abnormality of the dentition Edema Hip pain Nail dystrophy Thoracolumbar kyphosis Stiff neck Hypoplastic ilia Hypoplastic pelvis Beaking of vertebral bodies Trismus Irregular vertebral endplates Spinal canal stenosis Abnormal joint morphology Vertebral fusion Flared metaphysis Muscular dystrophy Hypotrichosis Metaphyseal irregularity Sparse scalp hair Dermal atrophy Hyperlipidemia Atherosclerosis Acanthosis nigricans Osteolysis Wormian bones Hyperpigmentation of the skin Insulin resistance Dental crowding Large fontanelles Thin skin Hypertriglyceridemia Delayed puberty Epidermal acanthosis Nephrotic syndrome Abnormality of the cardiovascular system Convex nasal ridge Abnormality of the skin Dental malocclusion Round face Full cheeks Sepsis Short distal phalanx of finger Abnormality of skin pigmentation Spondyloepiphyseal dysplasia Back pain Bone cyst Abnormality of the penis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Subcutaneous lipoma Transitional cell carcinoma of the bladder Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Long penis Cellular immunodeficiency Acrokeratosis Neoplasm of the thyroid gland Short long bone Upper limb muscle weakness Coxa valga Osteoarthritis Waddling gait Genu valgum Platyspondyly Arthralgia Kyphoscoliosis Abnormal electrophysiology of sinoatrial node origin Distal symphalangism of hands Aplasia of the middle phalanx of the hand Supraventricular arrhythmia Cardiomyopathy Fibroadenoma of the breast Thromboembolic stroke Paroxysmal atrial fibrillation Atrial fibrillation Tachycardia Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Aplasia/Hypoplasia of the maxilla



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