Generalized hypotonia, and Hyperkeratosis

Diseases related with Generalized hypotonia and Hyperkeratosis

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

Top matches:

Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (OMIM ), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013).See also {300858} for a phenotypically similar disorder that shows X-linked inheritance.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

Low match MEDNIK SYNDROME

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

Other less relevant matches:

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e|charcot-marie-tooth neuropathy, type 2e

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

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

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Low match MPDU1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.

MPDU1-CDG Is also known as congenital disorder of glycosylation type 1f|cdg syndrome type if|cdg-if|cdgif|cdg1f|carbohydrate deficient glycoprotein syndrome type if|congenital disorder of glycosylation type if|cdg if

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MPDU1-CDG

BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Hyperkeratosis

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Hyperkeratosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Dry skin Hearing impairment Muscle weakness Delayed speech and language development Feeding difficulties Seizures Muscular hypotonia Congenital contracture Nystagmus Ichthyosis Myopathy Failure to thrive Cardiomyopathy

Rare Symptoms - Less than 30% cases

Distal muscle weakness Paralysis Respiratory distress Skeletal muscle atrophy High palate Ptosis Erythroderma Short stature Pectus excavatum Abnormal heart morphology Hypertrophic cardiomyopathy Erythema Curly hair Myopia Hypertonia Scaling skin Respiratory failure Neonatal hypotonia Muscular dystrophy Respiratory insufficiency due to muscle weakness Congenital muscular dystrophy Follicular hyperkeratosis Cryptorchidism Pulmonic stenosis Microcephaly High forehead Peripheral neuropathy Strabismus Abnormality of the skeletal system Edema Sensorineural hearing impairment Cataract Hyperhidrosis Rigidity Limb-girdle muscular dystrophy Recurrent respiratory infections Respiratory insufficiency Abnormal facial shape Plantar flexion contractures Necrotizing myopathy Severe global developmental delay Limb-girdle muscle atrophy Congenital muscular torticollis Diaphragmatic paralysis Abnormality of the mitochondrion Abnormality of vision Limb-girdle muscle weakness Ankle contracture Abnormality of the coagulation cascade Abnormality of the dentition Arthritis Camptodactyly of finger Proximal muscle weakness Kyphoscoliosis Inflammatory abnormality of the skin Elevated serum creatine phosphokinase Protruding ear Scarring Glaucoma Torticollis Papule Abnormality of the cardiovascular system Decreased fetal movement Gastroesophageal reflux Elbow flexion contracture Congenital hip dislocation Progressive muscle weakness Limb muscle weakness Joint laxity Leukemia Epicanthus Wide nasal bridge Macrocephaly Downslanted palpebral fissures Intellectual disability, mild Sparse hair Broad forehead Webbed neck Low-set ears Growth hormone deficiency Cafe-au-lait spot Relative macrocephaly Bilateral ptosis Broad neck Asymmetry of the thorax Long eyebrows Depressed nasal bridge Hypertelorism Apnea Spinal rigidity Delayed puberty Severe muscular hypotonia EMG: myopathic abnormalities Poor head control Increased variability in muscle fiber diameter Multiple joint contractures Mildly elevated creatine phosphokinase Weak cry Abnormal elasticity of skin Centrally nucleated skeletal muscle fibers Neck muscle weakness Overweight Generalized joint laxity Pes valgus Minicore myopathy Gastrostomy tube feeding in infancy Abnormality of the eye Cerebral atrophy Severe short stature Hypohidrosis Nasal speech Distal amyotrophy Distal sensory impairment Split hand Foot dorsiflexor weakness Abnormality of the hand Hammertoe Facial palsy Impaired vibratory sensation Steppage gait Decreased motor nerve conduction velocity Nemaline bodies Distal lower limb amyotrophy Increased connective tissue Ulnar claw Adrenal insufficiency Difficulty walking Hypotension Hypocupremia Cirrhosis Cholestasis Hepatic fibrosis Abnormal intestine morphology Diarrhea Congenital sensorineural hearing impairment Intrahepatic cholestasis Decreased serum ceruloplasmin Gait ataxia Anisocoria Alacrima Achalasia Orthostatic hypotension Areflexia Hyporeflexia Pes cavus Hypotrophy of the small hand muscles Sensory impairment Absent speech Aspiration Asthma Brain atrophy Delayed myelination Spastic tetraplegia High myopia Intellectual disability, profound Mitral regurgitation Tetraplegia Abnormality of visual evoked potentials Drusen Ataxia Cognitive impairment Visual impairment Optic atrophy Upslanted palpebral fissure Generalized myoclonic seizures Pallor Hypoplasia of the corpus callosum Calcification of the aorta Dysphagia Gait disturbance Spasticity Postnatal growth retardation Wide mouth Nevus Reduced bone mineral density Heat intolerance Photophobia Hyperkeratosis pilaris Abnormality of the palpebral fissures Pulmonary edema Atopic dermatitis Aortic valve stenosis Hernia Inguinal hernia Juvenile myelomonocytic leukemia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Jaundice, related diseases and genetic alterations Autoimmunity and Osteosarcoma, related diseases and genetic alterations Macrocephaly and Cleft upper lip, related diseases and genetic alterations Brachydactyly and Autism, related diseases and genetic alterations Strabismus and Clinodactyly, related diseases and genetic alterations