Abnormal facial shape, and Sensory impairment

Diseases related with Abnormal facial shape and Sensory impairment

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Sensory impairment that can help you solving undiagnosed cases.


Top matches:

Low match PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME


Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Low match SPINOCEREBELLAR ATAXIA TYPE 13


Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 13 Is also known as sca13

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 13

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55


Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55 Is also known as spg55

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B


Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Low match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Low match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Low match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23


Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Low match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Sensory impairment

Symptoms // Phenotype % cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Sensory impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Hyperreflexia Generalized hypotonia Intellectual disability Spastic paraplegia Distal muscle weakness Paraplegia Distal sensory impairment Dysarthria Motor delay Babinski sign Nystagmus Skeletal muscle atrophy Cognitive impairment Spasticity Unsteady gait Axonal degeneration Strabismus Gait ataxia High palate Flexion contracture Delayed speech and language development Narrow face

Rare Symptoms - Less than 30% cases


Retrognathia Paraparesis Foot dorsiflexor weakness Peripheral axonal neuropathy Arthrogryposis multiplex congenita Lower limb muscle weakness Long face Abnormal pyramidal sign Waddling gait Hypertonia Ataxia Scoliosis Deeply set eye Facial asymmetry Spastic paraparesis Narrow mouth Edema Progressive distal muscle weakness Microcephaly Tremor Gait disturbance Cerebral cortical atrophy Kyphoscoliosis Spastic gait Abnormality of the periventricular white matter Low-set ears Depressed nasal bridge Thick lower lip vermilion Abnormality of the cerebral white matter Respiratory distress Onion bulb formation Downslanted palpebral fissures Upslanted palpebral fissure Constipation Hearing impairment Optic atrophy Dysphagia Difficulty walking Postural instability Urinary incontinence Cerebellar atrophy Wide nose Difficulty running Long philtrum Hernia Distal lower limb amyotrophy Distal lower limb muscle weakness Slender build Myokymia Adrenocortical adenoma Shoulder girdle muscle atrophy Neoplasm Cryptorchidism Hydrocephalus Abnormality of the dentition Abnormality of cardiovascular system morphology Impaired pain sensation Pheochromocytoma Increased circulating cortisol level Hemihypertrophy Inguinal hernia Carcinoma Overgrowth Nemaline bodies Bicuspid aortic valve Nephroblastoma Communicating hydrocephalus Myelomeningocele Skeletal muscle hypertrophy Neurofibromas Multiple lipomas Titubation Myopathic facies Facial diplegia Open mouth Dyspnea Pes planus Proximal muscle weakness Facial palsy Hyperlordosis Pectus carinatum Muscular dystrophy Narrow chest Falls Generalized muscle weakness Feeding difficulties Decreased fetal movement Lumbar hyperlordosis Frequent falls Thoracic kyphosis Progressive muscle weakness Muscle stiffness Knee flexion contracture Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Easy fatigability Congenital muscular dystrophy Increased variability in muscle fiber diameter Asymmetry of the thorax Decreased muscle mass Difficulty climbing stairs Centrally nucleated skeletal muscle fibers Neck muscle weakness Asymmetric growth Hemiareflexia Hepatoblastoma Pointed chin Gastroesophageal reflux Neonatal hypotonia Aggressive behavior Protruding ear Autistic behavior Broad forehead Dysmetria Bulbous nose Broad nasal tip Generalized myoclonic seizures Memory impairment Intention tremor Depressed nasal ridge Infantile muscular hypotonia Cerebellar hypoplasia Brisk reflexes Palpebral edema Large forehead Abnormal cortical gyration Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Short ear Hippocampal atrophy Hypoplastic hippocampus Hyperactivity Anteverted nares Embryonal neoplasm Abnormality of the genitourinary system Leiomyosarcoma Hemifacial hypertrophy Pes cavus Failure to thrive Micrognathia Abnormality of the nervous system Hip dislocation Hypopigmentation of the skin Sepsis Nevus Febrile seizures Cafe-au-lait spot Horseshoe kidney Bowel incontinence Macrocephaly Premature graying of hair Progressive spastic paraplegia Vitiligo Progeroid facial appearance White hair Progressive spastic paraparesis Multiple lentigines Flexion contracture of toe Bowel urgency Silver-gray hair Hyperpigmented nevi Hyperpigmentation in sun-exposed areas Premature graying of body hair Hypertelorism Respiratory failure Areflexia Pectus excavatum Mild microcephaly Delayed ability to walk Absent speech Decreased number of peripheral myelinated nerve fibers Failure to thrive in infancy Limb muscle weakness Tetraplegia Decreased nerve conduction velocity Postural tremor Impaired vibratory sensation Toe walking Lower limb hyperreflexia Broad-based gait Loss of speech Corpus callosum atrophy Cataract Absent Achilles reflex Urinary retention Primitive reflex Pseudobulbar paralysis Pollakisuria Hyperreflexia in upper limbs Impaired vibration sensation at ankles Impaired continence Sensorineural hearing impairment Triangular face Cerebral atrophy Hyperkeratosis Coarse facial features Syringomyelia Growth delay Papule Ophthalmoplegia Jerky ocular pursuit movements Upgaze palsy Impaired visuospatial constructive cognition Hyperactive deep tendon reflexes Urinary urgency Torticollis Talipes equinovarus Hypoplasia of the corpus callosum Limb ataxia Clumsiness Reduced visual acuity Optic disc pallor Bradykinesia Myoclonus Chronic constipation Lower limb spasticity Clonus Fasciculations Steppage gait Scotoma Optic neuropathy Central scotoma Upper limb muscle weakness Poor fine motor coordination Demyelinating peripheral neuropathy Decreased sensory nerve conduction velocity Axonal regeneration Focal white matter lesions Tibialis muscle weakness Abnormality of the eye Dry skin Kyphosis Scapular winging Hyperhidrosis Thin upper lip vermilion Rigidity Myalgia Paralysis Blepharophimosis Finger syndactyly Paresthesia Bifid uvula Hypotelorism Hoarse voice Abnormal heart morphology Narrow palpebral fissure Facial paralysis Depressivity Chronic pain Dysesthesia Weak voice Neuritis Peripheral axonal degeneration Cutis gyrata of scalp Radial head subluxation Brachial plexus neuropathy Impaired distal vibration sensation Muscular hypotonia Respiratory insufficiency Myopathy Congestive heart failure Hyporeflexia Syndactyly Vertigo Angiokeratoma Thick vermilion border Polyneuropathy Bilateral sensorineural hearing impairment Cardiomegaly Subcutaneous nodule Telangiectasia Lymphedema Aminoaciduria Opacification of the corneal stroma Tinnitus Smooth philtrum Telangiectasia of the skin Motor polyneuropathy Angiokeratoma corporis diffusum Joint laxity Lip telangiectasia Increased urinary O-linked sialopeptides Distal sensory impairment of all modalities White mater abnormalities in the posterior periventricular region Telangiectasia of the oral mucosa Cleft palate Pain Ptosis Poor speech Abnormality of the foot Epicanthus Fatigue Abnormality of the skeletal system Abnormal cardiac septum morphology Segmental myoclonic seizures



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