Skeletal muscle atrophy, and Nail dystrophy

Diseases related with Skeletal muscle atrophy and Nail dystrophy

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Nail dystrophy that can help you solving undiagnosed cases.


Top matches:

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D


Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011).For a discussion of genetic heterogeneity of HSAN, see HSAN1A (OMIM ).Spastic paraplegia-3A (SPG3A ) is an allelic disorder with a different phenotype.

Related symptoms:

  • Muscle weakness
  • Pain
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2


Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2 Is also known as hsan2|autosomal recessive sensory radicular neuropathy|hereditary sensory and autonomic neuropathy type ii|neurogenic acroosteolysis

Related symptoms:

  • Skeletal muscle atrophy
  • Hyperhidrosis
  • Hyperlordosis
  • Tapered finger
  • Abnormality of epiphysis morphology


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2B


Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2B Is also known as charcot-marie-tooth disease, autosomal dominant, type 2b|charcot-marie-tooth neuropathy, type 2b|cmt2b|hmsn iib|hmsn2b|hereditary motor and sensory neuropathy iib

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2B

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Other less relevant matches:

Low match SÉZARY SYNDROME


Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE


Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL 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 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 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Low match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Low match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Nail dystrophy

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Nail dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Intellectual disability Generalized hypotonia Dystrophic fingernails Scoliosis Short distal phalanx of finger Dystrophic toenail Intellectual disability, severe High palate Cataract Macrocephaly Wormian bones Diabetes mellitus Global developmental delay Abnormality of the skeletal system Osteoporosis Osteolysis Brachydactyly Neoplasm Protruding ear Growth delay Tapered finger Distal amyotrophy Pes cavus Broad forehead Genu valgum Macroglossia Pain Thick lower lip vermilion Midface retrusion Thickened skin

Rare Symptoms - Less than 30% cases


Delayed eruption of teeth Abnormality of the dentition Narrow mouth Hypospadias Short nose Abnormality of the kidney Hemivertebrae Myopathy Microcephaly Hypertension Flexion contracture Epicanthus Upslanted palpebral fissure Spina bifida occulta Narrow face Spasticity Muscle weakness Anonychia Hypertonia Bilateral cryptorchidism Narrow chest Synophrys Congenital cataract Macrotia Hypertelorism Brachycephaly Hypogonadism Sensorineural hearing impairment Cleft palate Malar flattening Depressed nasal bridge Wide nasal bridge Anteverted nares Sparse scalp hair Downslanted palpebral fissures Ptosis Cryptorchidism Posteriorly rotated ears Coarse facial features Thick eyebrow Thick vermilion border Down-sloping shoulders Intellectual disability, progressive Insulin-resistant diabetes mellitus Short clavicles Protruding tongue Increased body weight Large fontanelles Wide mouth Mandibular prognathia Abnormality of epiphysis morphology Hypotrichosis Sensory axonal neuropathy Foot pain Sensory neuropathy Hepatomegaly Areflexia Distal sensory impairment Peripheral axonal neuropathy Paraplegia Edema Splenomegaly Spastic paraplegia Pes planus Hepatosplenomegaly Alopecia Hyperreflexia Hyporeflexia Cerebral cortical atrophy Abnormality of the metacarpal bones Abnormality of the foot Sprengel anomaly Glossoptosis Short neck Hearing abnormality Optic atrophy Talipes equinovarus Increased number of teeth Hypoplasia of the zygomatic bone Sleep apnea Hypoplastic scapulae Decreased skull ossification Abnormality of the thumb Vomiting Dolichocephaly Hyperactivity Gastroesophageal reflux Open bite Pneumonia Constipation Delayed skeletal maturation Clinodactyly Micropenis Dimple chin Microtia Kyphoscoliosis Chronic otitis media Thin upper lip vermilion Telecanthus Obesity Abnormality of pelvic girdle bone morphology Growth abnormality Short face Low-set ears Poor coordination Bone cyst Generalized osteoporosis Tics Broad face Progressive gait ataxia Thoracic kyphosis Irregular vertebral endplates Ectopic calcification Restlessness Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Recurrent ear infections Narrow iliac wings Abnormal sacrum morphology Increased size of the mandible Cervical C2/C3 vertebral fusion Rib segmentation abnormalities Hypoplastic inferior ilia Shoulder muscle hypoplasia Decreased testicular size Superiorly displaced ears Calcification of the auricular cartilage Absent facial hair Abnormal glucose tolerance Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Cervical segmentation defect Posterior polar cataract Vesicoureteral reflux Exotropia Narrow forehead Recurrent respiratory infections Frontal bossing Hypertrichosis Clinodactyly of the 5th finger Small nail Intellectual disability, profound Bilateral sensorineural hearing impairment Overgrowth Hirsutism Short distal phalanx of toe Bulbous nose Joint hypermobility Umbilical hernia Polyhydramnios Dyspnea Skeletal dysplasia Carious teeth Polydactyly Mesiodens Prominent eyelashes Hernia Accelerated skeletal maturation Large for gestational age Pericardial effusion Aortic root aneurysm Broad ribs Hemangioma Thin bony cortex Colpocephaly Long penis Gingival fibromatosis Aortic arch aneurysm Hyperextensibility of the finger joints Cavernous hemangioma Generalized hirsutism Gingival overgrowth Nephrolithiasis Biliary atresia Generalized hypertrichosis Everted upper lip vermilion Patent ductus arteriosus Dilatation Renal hypoplasia Infantile muscular hypotonia Slender finger External genital hypoplasia Mild short stature Radial deviation of finger Encephalitis Tented upper lip vermilion Scrotal hypoplasia Drooling Sloping forehead Abnormality of the ribs Widely spaced teeth Sinusitis Abnormality of dental enamel Coxa vara Metaphyseal widening Abnormality of the genital system Open mouth Abnormality of blood and blood-forming tissues Facial hypotonia Congestive heart failure Alternating exotropia Cardiomyopathy Myopia Muscular hypotonia Strabismus Triangular nasal tip High, narrow palate Overjet Paroxysmal bursts of laughter Hypoplastic philtrum Asplenia Recurrent fractures Equinovarus deformity Widely-spaced maxillary central incisors Talipes calcaneovalgus Bilateral renal hypoplasia U-Shaped upper lip vermilion Short upper lip Lower limb hypertonia Mixed hearing impairment Babinski sign Truncal obesity Triangular face Rigidity Retrognathia Proptosis Hyperkeratosis Dry hair Spastic diplegia Cupped ear Brittle hair Long face Postnatal growth retardation Atrial septal defect Cutaneous T-cell lymphoma Abnormal immunoglobulin level Abnormal lymphocyte morphology T-cell lymphoma Lichenification Abnormality of the pleura Gangrene Proximal muscle weakness Joint stiffness Erythroderma Abnormality of the skin Insulin resistance Dental crowding Thin skin Hypertriglyceridemia Epidermal acanthosis Nephrotic syndrome Abnormality of the cardiovascular system Convex nasal ridge Dental malocclusion Paralysis Round face Full cheeks Sepsis Abnormality of skin pigmentation Delayed puberty Muscular dystrophy Scarring Sparse hair Irregular hyperpigmentation Ectropion Acanthosis nigricans Abnormality of the hip bone Sensory impairment Distal muscle weakness Cerebellar atrophy Nystagmus Foot acroosteolysis Abnormality of the ankles Abnormality of the knee Abnormal cortical bone morphology Reduced bone mineral density Reduced tendon reflexes Hyperlordosis Hyperhidrosis Autoamputation Distal sensory loss of all modalities Osteomyelitis Cerebral palsy Nail dysplasia Paresthesia Foot dorsiflexor weakness Hammertoe Neoplasm of the skin Immunodeficiency Abnormality of the face Lymphoma Palmoplantar keratoderma Lymphadenopathy Dry skin Pruritus Skin rash Weight loss Tremor Steppage gait Fever Autoamputation of foot Foot osteomyelitis Peripheral axonal atrophy Axonal degeneration/regeneration Absent Achilles reflex Decreased number of peripheral myelinated nerve fibers Axonal degeneration Decreased motor nerve conduction velocity Hyperpigmentation of the skin Atherosclerosis Metatarsus adductus Pectus excavatum Aggressive behavior Conductive hearing impairment Deeply set eye Osteopenia Hypothyroidism Autism Gait ataxia Agenesis of corpus callosum Microphthalmia Abnormal pyramidal sign Kyphosis Intellectual disability, mild Behavioral abnormality Hydrocephalus Hypoplasia of the corpus callosum Gait disturbance Anemia Ataxia Developmental regression Prominent nasal bridge Foamy urine Hypergonadotropic hypogonadism Melanocytic nevus Self-injurious behavior Schizophrenia Abnormal palate morphology Plagiocephaly Spastic paraparesis Knee flexion contracture Paraparesis Clonus Downturned corners of mouth Gynecomastia Abnormal form of the vertebral bodies Bradykinesia Cerebral calcification Hip dysplasia Otitis media Nevus Hypoplasia of the maxilla Neurodegeneration Stiff elbow Progressive clavicular acroosteolysis Hyperlipidemia Glucose intolerance Premature loss of teeth Arthropathy Prematurely aged appearance Spinal rigidity Reduced subcutaneous adipose tissue Hypermelanotic macule Delayed cranial suture closure High pitched voice Focal segmental glomerulosclerosis Progeroid facial appearance Hyperostosis Hyperglycemia Absent eyebrow Congenital muscular dystrophy Glomerulosclerosis Hyperinsulinemia Lipodystrophy Dermal atrophy Narrow nose Osteolytic defects of the phalanges of the hand Increased facial adipose tissue Mottled pigmentation Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Bird-like facies Loss of subcutaneous adipose tissue in limbs Vertebral compression fractures Hematemesis Breast aplasia Wide cranial sutures Generalized lipodystrophy Narrow nasal ridge Broad distal phalanx of finger Hypoplasia of teeth Prominent superficial veins Calcinosis Neck muscle hypoplasia



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