Generalized hypotonia, and Palmoplantar keratoderma

Diseases related with Generalized hypotonia and Palmoplantar keratoderma

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


Top matches:

Medium match SRD5A3-CDG


SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Medium 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

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

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Other less relevant matches:

Low match MUCOLIPIDOSIS TYPE IV


Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE IV

Low match CEDNIK SYNDROME


CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2


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

Low match ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR


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

Low match TRIPLE A SYNDROME


Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.

TRIPLE A SYNDROME Is also known as glucocorticoid deficiency and achalasia|quaternary a syndrome|addisonian-achalasia syndrome|achalasia-addisonianism-alacrima syndrome|alacrima-achalasia-adrenal insufficiency neurologic disorder|2a syndrome|3a syndrome|adrenal insufficiency-achalasia-alac

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRIPLE A SYNDROME

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


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

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Palmoplantar keratoderma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hyperkeratosis Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Ataxia Short stature Peripheral neuropathy Palmoplantar hyperkeratosis Muscle weakness Nystagmus Hypertelorism Ichthyosis Cataract Failure to thrive Dysphagia Optic atrophy Skeletal muscle atrophy High palate Delayed speech and language development Feeding difficulties Hyperhidrosis Downslanted palpebral fissures Strabismus Microcephaly Sensorineural hearing impairment Abnormality of the dentition Scoliosis Depressed nasal bridge Polymicrogyria Abnormal facial shape Low-set ears Inflammatory abnormality of the skin Motor delay

Rare Symptoms - Less than 30% cases


Gait disturbance Hyperpigmentation of the skin Areflexia Polyneuropathy Cavernous hemangioma Flexion contracture Adrenal insufficiency Hypotension Orthostatic hypotension Achalasia Alacrima Multiple cafe-au-lait spots Anisocoria Melanocytic nevus Hemangioma Hyperreflexia High forehead Growth delay Erythema Congestive heart failure Macrotia Intellectual disability, severe Coarse facial features Cafe-au-lait spot EEG abnormality Edema Abnormality of the eye Dolichocephaly Behavioral abnormality Dysarthria Dry skin Peripheral axonal neuropathy Long face Ptosis Atopic dermatitis Generalized hyperpigmentation Biparietal narrowing Pes cavus Abnormality of vision Joint hypermobility Erythroderma Pectus excavatum Abnormal heart morphology Abnormality of skin pigmentation Dilatation Cutis laxa Kyphosis Optic nerve hypoplasia Diarrhea Abnormality of the kidney Myopathy Atrial septal defect Hydrocephalus Frontal bossing Macrocephaly Myopia Cognitive impairment Micrognathia Autism Neoplasm Leukemia Large for gestational age Hyperextensibility of the finger joints Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Abnormality of hair texture Excessive wrinkled skin Foot dorsiflexor weakness Abnormality of the pulmonary artery Abnormal aortic valve morphology Anterior creases of earlobe Bilateral ptosis Sparse eyebrow Subvalvular aortic stenosis Scaling skin Pleural effusion Thickened helices Abnormality of the hand Slow-growing hair Ectropion Abnormal mitral valve morphology Frontal balding Abnormality of the optic disc Deep palmar crease Laryngeal cleft Abnormality of the hairline Distal amyotrophy Hyperkeratosis pilaris Distal sensory impairment Split hand Relative macrocephaly Tongue thrusting Poor suck Functional abnormality of the gastrointestinal tract Generalized ichthyosis Abnormal tricuspid valve morphology Hyperextensible skin Hypoplasia of the frontal lobes Deep philtrum Optic nerve dysplasia Redundant skin Patchy alopecia Brittle hair Failure to thrive in infancy Ulnar claw Gastrointestinal dysmotility Abnormality of refraction Open bite Increased connective tissue Nemaline bodies Heart murmur Obsessive-compulsive behavior Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Distal lower limb amyotrophy Curly hair Abnormal heart valve morphology Decreased motor nerve conduction velocity Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Absent eyebrow Hydroureter Malnutrition Alopecia of scalp Steppage gait Abnormal myocardium morphology Abnormal location of ears Congenital contracture Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Hammertoe Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Abnormality of the gastrointestinal tract Chronic otitis media Abnormality of the ulna Impaired vibratory sensation Cubitus valgus Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Short attention span Paralysis Distal muscle weakness Abnormality of the hypothenar eminence Anterior hypopituitarism Abnormal intestine morphology Hepatic fibrosis Cholestasis Cirrhosis Upslanted palpebral fissure Decreased circulating aldosterone level Plantar hyperkeratosis Abnormality of the calf musculature Nasal speech Intrahepatic cholestasis Hypohidrosis Adrenocorticotropin receptor defect Sensory impairment Spasticity Calcification of the aorta Pulmonary edema Aortic valve stenosis Mitral regurgitation Arthritis Glaucoma Congenital sensorineural hearing impairment Hypocupremia Optic disc hypoplasia Developmental regression Primary adrenal insufficiency Ectopic kidney Oral-pharyngeal dysphagia Spastic tetraparesis Abnormal autonomic nervous system physiology Tetraparesis Parkinsonism Neurodegeneration Iris coloboma Tachycardia Motor axonal neuropathy Decreased serum ceruloplasmin Abnormality of the nervous system Hypoglycemia Weight loss Dementia Decreased circulating cortisol level Babinski sign Arrhythmia Respiratory insufficiency Fatigue Visual impairment Abnormality of the skeletal system Diffuse palmoplantar keratoderma Puberty and gonadal disorders Absent speech Developmental stagnation Genu recurvatum Abnormal electroretinogram Abnormality of retinal pigmentation Microdontia Everted lower lip vermilion Corneal opacity Retinopathy Photophobia Oral aversion Abnormal nasal morphology Difficulty walking Multiple plantar creases Facial palsy Eyelid fasciculation Multiple palmar creases Abnormality of visual evoked potentials Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of mucopolysaccharide metabolism Perisylvian polymicrogyria Nephrotic syndrome Abnormal corpus callosum morphology Abnormality of peripheral nerve conduction Cortical dysplasia Poor head control Intellectual disability, progressive Short chin Respiratory distress Progressive microcephaly Pachygyria Depressed nasal ridge Hyporeflexia Abnormality of ganglioside metabolism Abnormality of eye movement Delayed gross motor development Prominent nasal bridge Stroke Proteinuria Hypogonadism Agenesis of corpus callosum Hypoplasia of the corpus callosum Wide nasal bridge Gait ataxia Severe global developmental delay Bruising susceptibility Abnormality of the genitourinary system Renal cell carcinoma Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Hodgkin lymphoma Furrowed tongue Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Acute myeloid leukemia Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Arteriovenous malformation Abnormality of the uterus Intracranial hemorrhage Adenoma sebaceum Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Decreased proportion of CD4-positive T cells Astrocytoma Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Hand polydactyly Dysdiadochokinesis Progressive macrocephaly Type I transferrin isoform profile Narrow mouth Recurrent infections Headache Immunodeficiency Intellectual disability, mild Tremor Brachydactyly Pain Reduced antithrombin III activity Anterior pituitary hypoplasia Microcytic anemia Proximal muscle weakness Abnormality of coagulation Oligodontia Hypertrichosis Cerebellar vermis hypoplasia Eczema Coloboma Elevated hepatic transaminase Brachycephaly Visual loss Cerebellar atrophy Anemia Hypothyroidism Carcinoma Incoordination Chronic diarrhea Goiter Breast carcinoma Melanoma Hypopigmented skin patches Increased intracranial pressure Drooling Cranial nerve paralysis Neoplasm of the skin Lymphopenia Gynecomastia Exotropia Telangiectasia Intellectual disability, moderate Subcutaneous nodule Broad thumb Intention tremor Overgrowth Decreased antibody level in blood Lymphoma Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Nausea and vomiting Papule Colorectal polyposis Pseudopapilledema Sleep apnea Astigmatism Full cheeks Abnormal bleeding Abdominal distention Sleep disturbance High, narrow palate Hepatic steatosis Thick vermilion border Retinal dystrophy Bulbous nose Falls Genu valgum Vesicoureteral reflux Pulmonic stenosis Hypotrichosis Hypermetropia Abnormality of the cerebral white matter Nail dystrophy Pruritus Neurological speech impairment Pectus carinatum Abnormal cardiac septum morphology Scarring Sparse hair Nevus Intestinal malrotation Irritability Open mouth Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Sparse eyelashes Narrow palate Abnormality of the nail Aspiration Cerebral visual impairment Lymphedema Thickened skin Decreased body weight Hemiparesis Premature birth Myocardial infarction Fine hair Low posterior hairline Coarctation of aorta Cardiomegaly Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Webbed neck Dental malocclusion Respiratory tract infection Feeding difficulties in infancy Mucosal telangiectasiae Lobular carcinoma in situ Vomiting Blindness Cardiomyopathy Short neck Anteverted nares Ventriculomegaly Ventricular septal defect Hepatomegaly Epicanthus Cryptorchidism Multiple trichilemmomata Splenomegaly Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Hypertonia Short nose Low-set, posteriorly rotated ears Posteriorly rotated ears Telecanthus Hypertrophic cardiomyopathy Aggressive behavior Hydronephrosis Umbilical hernia Osteopenia Gastroesophageal reflux Polyhydramnios Proptosis Cerebral cortical atrophy Prominent forehead Alopecia Long philtrum Constipation Clinodactyly of the 5th finger Delayed skeletal maturation Inguinal hernia Encephalopathy Depressivity Hernia Thrombocytopenia Abnormality of cardiovascular system morphology Cerebral atrophy Malar flattening Hypotrophy of the small hand muscles



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