Generalized hypotonia, and Ectodermal dysplasia
Diseases related with Generalized hypotonia and Ectodermal dysplasia
In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Ectodermal dysplasia that can help you solving undiagnosed cases.
Top matches:
Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Scoliosis
- Nystagmus
More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED
Medium match COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY
Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.
COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
- Muscle weakness
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCYOther less relevant matches:
Medium match CRANIOECTODERMAL DYSPLASIA 4; CED4
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).
Related symptoms:
- Short stature
- Generalized hypotonia
- Hypertension
- Brachydactyly
- Frontal bossing
More info about CRANIOECTODERMAL DYSPLASIA 4; CED4
Medium match 2Q32Q33 MICRODELETION SYNDROME
2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.
2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about 2Q32Q33 MICRODELETION SYNDROMEMedium match TRICHORHINOPHALANGEAL SYNDROME TYPE 2
Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Hearing impairment
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2Medium match CRANIOECTODERMAL DYSPLASIA
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced
Related symptoms:
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Growth delay
- Nystagmus
SOURCES: OMIM ORPHANET MENDELIAN
More info about CRANIOECTODERMAL DYSPLASIAMedium match CHIME SYNDROME
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about CHIME SYNDROMEMedium match GENITOPATELLAR SYNDROME
Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.
GENITOPATELLAR SYNDROME Is also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about GENITOPATELLAR SYNDROMELow match HARTSFIELD SYNDROME
Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.
HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate
Related symptoms:
- Intellectual disability
- Global developmental delay
- Microcephaly
- Growth delay
- Hypertelorism
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about HARTSFIELD SYNDROMETop 5 symptoms//phenotypes associated to Generalized hypotonia and Ectodermal dysplasia
| Symptoms // Phenotype | % cases |
|---|---|
| Global developmental delay | Common - Between 50% and 80% cases |
| Microcephaly | Common - Between 50% and 80% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Brachydactyly | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
Other less frequent symptoms
Patients with Generalized hypotonia and Ectodermal dysplasia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Muscular hypotonia Sparse hair Wide nasal bridge Short stature Cleft palate Abnormality of the dentition Abnormal facial shape Delayed speech and language development Feeding difficulties Frontal bossing Fine hair Hypertelorism Growth delay Protruding ear Talipes equinovarus Depressed nasal bridge Craniosynostosis Joint laxity Pectus excavatum Epicanthus Osteoporosis Downslanted palpebral fissures Clinodactyly of the 5th finger Long philtrum Abnormality of the skeletal system Low-set ears Ptosis Talipes Joint hyperflexibility Full cheeks Widely spaced teeth Microdontia Abnormality of cardiovascular system morphology Syndactyly Abnormal heart morphology Wide nose Short palm Prominent nasal bridge Strabismus Abnormality of dental morphology Sparse scalp hair Hearing impairmentRare Symptoms - Less than 30% cases
Cutis laxa Micropenis Limb undergrowth Agenesis of corpus callosum Short columella Redundant skin Micrognathia Intellectual disability, profound Sagittal craniosynostosis Pes valgus Chronic kidney disease Broad-based gait Cryptorchidism Prominent nose Bilateral talipes equinovarus Abnormality of digit Elevated serum creatinine Hypospadias Anteverted nares Flexion contracture Thick eyebrow Severe global developmental delay Conductive hearing impairment Bulbous nose Short philtrum Low-set, posteriorly rotated ears Hip dysplasia Camptodactyly Thin upper lip vermilion Finger syndactyly High forehead High palate Autism Delayed puberty Brachycephaly Posteriorly rotated ears Hernia Recurrent urinary tract infections Intellectual disability, severe Downturned corners of mouth Ventriculomegaly Postnatal growth retardation Hepatic fibrosis Ventricular septal defect Renal insufficiency Gastroesophageal reflux Hypotelorism Hypodontia Scoliosis Upslanted palpebral fissure Absent speech Pneumonia Nystagmus Hydronephrosis Prominent forehead Abnormality of the kidney Hypocalcemia Dry skin Increased number of teeth Nephropathy Short distal phalanx of finger Thin vermilion border Fragile nails Joint hypermobility Stage 5 chronic kidney disease Spasticity Telecanthus Smooth philtrum Narrow chest Broad thumb Thin skin Scaphocephaly Abnormality of the outer ear Palmoplantar hyperkeratosis Protuberant abdomen Taurodontia Recurrent skin infections Leukemia Fibular hypoplasia Decreased fertility Long foot Acute leukemia Thoracic hypoplasia Acute lymphoblastic leukemia Hypoplastic nipples Short thorax Transposition of the great arteries Prominent occiput Large for gestational age Short humerus Keratitis Large hands Erythroderma Overfolded helix Anodontia Brittle hair High hypermetropia Growth abnormality Tubulointerstitial nephritis Abnormal diaphysis morphology Abnormal dermatoglyphics Erythema Malformation of the hepatic ductal plate Cerebral atrophy Webbed neck Cerebral cortical atrophy Bifid uvula Hyperkeratosis Abnormality of the nervous system Wide mouth Incisional hernia Short foot Coloboma Thick vermilion border Ichthyosis Hypotrichosis Hip dislocation Corneal opacity Broad distal phalanges of all fingers Tetralogy of Fallot Osteolysis Flattened epiphysis Skin ulcer Abnormal toenail morphology Slow-growing hair Hepatic cysts Joint contracture of the hand Abnormality of epiphysis morphology Abnormality of the abdominal wall Thin nail Renal magnesium wasting Interstitial pneumonitis Tall stature Short nail Depressed nasal ridge Tubulointerstitial abnormality Broad toe Thick lower lip vermilion Retinal coloboma Short phalanx of finger Peripheral pulmonary artery stenosis Absent scrotum Neonatal hypotonia Hypogonadism Microphthalmia Respiratory insufficiency Intrauterine growth retardation Hypoplastic inferior pubic rami Scrotal hypospadias Enlarged labia minora Small scrotum Cleft upper lip Tongue thrusting Abnormal bone structure Periventricular gray matter heterotopia Talipes calcaneovalgus Clitoral hypoplasia Hypoplastic ischia Calcaneovalgus deformity Primary hypothyroidism Cleft lip Oral cleft Colpocephaly Aplasia/Hypoplasia of the radius Hypoplasia of the frontal bone Duplication of thumb phalanx Hypernatremia Semilobar holoprosencephaly Long hallux Central diabetes insipidus Gonadotropin deficiency Megalocornea Ectrodactyly Split hand Absent septum pellucidum Non-midline cleft lip Diabetes insipidus Hypoplasia of the brainstem Poor head control Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Holoprosencephaly Encephalocele Patellar hypoplasia Labial hypoplasia Aplasia/Hypoplasia of the nipples Sensorineural hearing impairment Coarse facial features Kyphoscoliosis Polyhydramnios Hypothyroidism Patent ductus arteriosus Edema Atrial septal defect Dysphagia Low-set nipples Arthrogryposis multiplex congenita Aplasia/Hypoplasia of the phalanges of the toes Violent behavior Pulmonary valve atresia Aplasia/Hypoplasia of the phalanges of the hand Clubbing of toes Duplicated collecting system Aplastic clavicle Ureteropelvic junction obstruction Apnea Pulmonary hypoplasia Patellar aplasia Radioulnar synostosis Hypoplastic ilia Beaking of vertebral bodies Hypoplastic labia majora Patellar dislocation Hip contracture Anteriorly placed anus Ectopic kidney Clitoral hypertrophy Laryngomalacia Delayed eruption of teeth Abnormality of the genitourinary system Scrotal hypoplasia Intellectual disability, progressive Multicystic kidney dysplasia Knee flexion contracture Congenital hip dislocation Radial deviation of finger Heterotopia Narrow forehead Cupped ear Exotropia Bicuspid aortic valve Behavioral abnormality Osteopenia Narrow mouth Hyperactivity Hyperhidrosis Inguinal hernia Midface retrusion Malar flattening Macrocephaly Aggressive behavior Hyperreflexia Broad phalanx of the toes Broad distal phalanx of finger Cutaneous finger syndactyly Nephronophthisis Cone/cone-rod dystrophy Recurrent pneumonia Bone marrow hypocellularity Anxiety Attention deficit hyperactivity disorder Hypermetropia Febrile seizures Microretrognathia Long eyelashes Dental crowding Hemiparesis Short palpebral fissure Decreased testicular size Convex nasal ridge Nail dysplasia Broad forehead Dental malocclusion Sleep disturbance Long face Arachnodactyly Poor speech Facial asymmetry Abnormality of the foot Abnormality of the cerebral white matter Asthma Rod-cone dystrophy Oligodontia Motor delay Diarrhea Myopathy Fever Muscle weakness Failure to thrive Premature loss of primary teeth Abnormal cardiac septum morphology Postnatal microcephaly Recurrent infections Inability to walk Abnormality of eye movement Abnormality of the eye EEG abnormality Constipation Cerebellar atrophy Hypoplasia of the corpus callosum Visual impairment Immunodeficiency Thrombocytopenia Hypertension Episodic fever Protracted diarrhea Pyelonephritis Hypoplasia of the thymus Recurrent aphthous stomatitis Stomatitis Heat intolerance Progressive encephalopathy Amelogenesis imperfecta Anhidrosis Encephalopathy Gowers sign Encephalitis Respiratory insufficiency due to muscle weakness Chronic diarrhea Sepsis Neutropenia Lymphadenopathy Difficulty walking Drooling Tented upper lip vermilion Abnormality of the fingernails Prune belly Scapular exostoses Rib exostoses Persistent cloaca Mild postnatal growth retardation Aplasia/Hypoplasia of the mandible Absent toe Hydrometrocolpos Multiple exostoses Redundant skin in infancy Thick nasal alae Vaginal atresia Avascular necrosis of the capital femoral epiphysis Oligospermia Spinal cord compression Cone-shaped epiphyses of the phalanges of the hand Exostoses Cone-shaped epiphysis Multiple long-bone exostoses Hepatomegaly Deep philtrum Single transverse palmar crease Abnormality of dental enamel Short ribs Short toe Rhizomelia Hypoplasia of dental enamel Omphalocele Abnormality of the metaphysis Everted lower lip vermilion Myopia High, narrow palate Retinal dystrophy Hepatic failure Dolichocephaly Photophobia Respiratory failure Clinodactyly Congestive heart failure Preaxial polydactyly Recurrent upper respiratory tract infections Relative macrocephaly Conical tooth Median cleft palate Toe clinodactyly Happy demeanor Overbite Excessive salivation Generalized osteoporosis Cleft soft palate Broad hallux phalanx Dacryocystitis Self-mutilation Narrow nose Abnormality of the periventricular white matter Restlessness Long nose Myopathic facies Overlapping toe Dermal atrophy Large beaked nose Incomprehensible speech Abnormal palate morphology Genu valgum Scapular winging Joint dislocation Bilateral single transverse palmar creases Gynecomastia Bone pain Growth hormone deficiency Vesicoureteral reflux Nevus Stroke Narrow maxilla Joint stiffness Deeply set eye Macrotia Polydactyly Delayed skeletal maturation Cognitive impairment Narrow jaw Conspicuously happy disposition Lobar holoprosencephalyIf you liked this article maybe you will also find interesting the following 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