Delayed speech and language development, and Interphalangeal joint contracture of finger
Diseases related with Delayed speech and language development and Interphalangeal joint contracture of finger
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Interphalangeal joint contracture of finger that can help you solving undiagnosed cases.
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Low match MASA SYNDROME
The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features. X-linked, autosomal dominant (see {182600}), and autosomal recessive (see {270800}) forms of SPG have been described.Spastic paraplegia-1 is usually called MASA syndrome, the designation originally suggested by Bianchine and Lewis (1974), because the main clinical features are summarized by the acronym MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs). The shuffling gait is probably caused by spasticity of the lower limbs, and all affected males have been reported to have increased reflexes. The adducted thumbs are thought to be caused by hypoplastic or absent extensor pollicis longus or brevis muscles. In affected males, the onset of speech is delayed (Winter et al., 1989).See {314100} for isolated X-linked congenital clasped thumb and {201550} for an autosomal adducted thumbs syndrome.
MASA SYNDROME Is also known as mental retardation, aphasia, shuffling gait, and adducted thumbs, spastic paraplegia 1, x-linked;spg1, clasped thumb and mental retardation, thumb, congenital clasped, with mental retardation, adducted thumb with mental retardation, gareis-mason syndrome, crash syndrome;intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Pica
- Microcephaly
SOURCES: GARD NCIT MONDO OMIM UMLS SCTID DOID ORPHANET
More info about MASA SYNDROMELow match ABLEPHARON-MACROSTOMIA SYNDROME; AMS
Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).
ABLEPHARON-MACROSTOMIA SYNDROME; AMS Is also known as ;
Related symptoms:
- Autosomal recessive inheritance
- Autosomal dominant inheritance
- Global developmental delay
- Hearing impairment
- Microcephaly
SOURCES: SCTID MONDO GARD MESH OMIM UMLS ORPHANET DOID
More info about ABLEPHARON-MACROSTOMIA SYNDROME; AMSLow match ALLAN-HERNDON-DUDLEY SYNDROME; AHDS
Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
ALLAN-HERNDON-DUDLEY SYNDROME; AHDS Is also known as allan-herndon syndrome, monocarboxylate transporter 8 deficiency, triiodothyronine resistance, t3 resistance, mental retardation, x-linked, with hypotonia, mental retardation and muscular atrophy;ahds; mct8 deficiency; monocarboxylate transporter 8 deficiency; x-linked intellectual disability-hypotonia syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Pica
- Microcephaly
SOURCES: UMLS SCTID ORPHANET MONDO GARD NCIT OMIM DOID MESH
More info about ALLAN-HERNDON-DUDLEY SYNDROME; AHDS
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Other less relevant matches:
Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ
) gene encoding a JmjC-domain protein with histone demethylase activity.
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ Is also known as mental retardation, x-linked, syndromic, jarid1c-related;mrxsj;
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES: SCTID UMLS DOID ORPHANET MONDO OMIM MESH
More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJLow match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4
MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007; Muntoni and Voit, 2004; Muntoni et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 Is also known as fukuyama congenital muscular dystrophy;fcmd, walker-warburg syndrome or muscle-eye-brain disease, fktn-related;fcmd; fukuyama congenital muscular dystrophy
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
SOURCES: MONDO UMLS SCTID ORPHANET DOID NCIT OMIM
More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4Low match COLD-INDUCED SWEATING SYNDROME 1; CISS1
Cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).
COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome, sohar-crisponi syndrome, muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death;ciss
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Pica
SOURCES: MONDO OMIM UMLS GARD ORPHANET MESH
More info about COLD-INDUCED SWEATING SYNDROME 1; CISS1Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC
X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC Is also known as cabezas syndrome, mental retardation, x-linked, syndromic 15;mrxs15, mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait, mental retardation, x-linked, with short stature;mrss;cabezas syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES: GARD SCTID DOID MONDO ORPHANET UMLS OMIM
More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSCLow match WITTEVEEN-KOLK SYNDROME; WITKOS
15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.
WITTEVEEN-KOLK SYNDROME; WITKOS Is also known as ;del(15)(q24); monosomy 15q24
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES: OMIM UMLS ORPHANET SCTID MESH DOID MONDO GARD
More info about WITTEVEEN-KOLK SYNDROME; WITKOSLow match MOWAT-WILSON SYNDROME; MOWS
Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.
MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease, hirschsprung disease-mental retardation syndrome
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
SOURCES: SCTID ORPHANET OMIM UMLS
More info about MOWAT-WILSON SYNDROME; MOWSLow match CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL
Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.
CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL Is also known as distal chromosome 22q11.2 deletion syndrome;distal del(22)(q11.2); distal monosomy 22q11.2
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: MESH UMLS DOID OMIM MONDO ORPHANET
More info about CHROMOSOME 22q11.2 DELETION SYNDROME, DISTALTop 5 symptoms//phenotypes associated to Delayed speech and language development and Interphalangeal joint contracture of finger
| Symptoms // Phenotype | % cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Camptodactyly of finger | Very Common - Between 80% and 100% cases |
| Microcephaly | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Motor delay | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Delayed speech and language development and Interphalangeal joint contracture of finger. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Seizures
Uncommon Symptoms - Between 30% and 50% cases
Generalized hypotonia
Common Symptoms - More than 50% cases
Intellectual disability, severe
Uncommon Symptoms - Between 30% and 50% cases
Pica
Common Symptoms - More than 50% cases
Scoliosis
Uncommon Symptoms - Between 30% and 50% cases
Strabismus
Common Symptoms - More than 50% cases
Short stature
Uncommon Symptoms - Between 30% and 50% cases
Growth delay Micrognathia Short palm Abnormal facial shape High palate Ventriculomegaly Muscular hypotonia Cryptorchidism Intrauterine growth retardation Depressed nasal bridge Tapered finger Hearing impairment Hypertelorism Flexion contracture Hypermetropia Abnormality of the pinna Deeply set eye Polymicrogyria Pes planus Toe syndactyly Underdeveloped nasal alae Downslanted palpebral fissures Macrocephaly Gait disturbance Talipes equinovarus Pectus excavatum Agenesis of corpus callosum Absent speech Macrotia Mandibular prognathia Hypoplasia of the corpus callosum Long face Upslanted palpebral fissure Tics Skeletal muscle atrophy Feeding difficulties in infancy Inguinal hernia Protruding ear Ptosis Open mouth Brachydactyly Micropenis High, narrow palate Clinodactyly Retrognathia Hypospadias Epicanthus Immunodeficiency High forehead Joint hyperflexibility Sandal gap Highly arched eyebrow Attention deficit hyperactivity disorder Blepharophimosis Narrow mouth Hypertonia Aggressive behavior Wide nasal bridge Cleft palate Abnormality of cardiovascular system morphology Posteriorly rotated ears Pointed chin Pulmonic stenosis Dilatation Microphthalmia Atrial septal defect Smooth philtrum Prominent nasal bridge Nystagmus Behavioral abnormality Fine hair Myopia Clinodactyly of the 5th finger Pes cavus Spastic paraplegia Babinski sign X-linked recessive inheritance Abnormality of the genital system Hernia Malar flattening Short nose Anteverted nares Oxycephaly Spasticity Autosomal dominant inheritance Autosomal recessive inheritance Cognitive impairment Thin vermilion border Hyperreflexia Paraplegia
Rare Symptoms - Less than 30% cases
Pain Hallux valgus Bowel incontinence Generalized muscle weakness Generalized amyotrophy Auricular tag Aplasia/Hypoplasia of the corpus callosum Drooling Arachnodactyly Abnormality of the outer ear Abnormality of earlobe Bilateral single transverse palmar creases Intellectual disability, progressive Narrow face Biparietal narrowing Congenital diaphragmatic hernia Short neck Hyperactive deep tendon reflexes Restlessness Iris coloboma Broad forehead Decreased testicular size Adducted thumb Falls Short foot Short distal phalanx of finger Visual impairment Thin upper lip vermilion Intellectual disability, moderate Autism Syndactyly Wide mouth Distal lower limb amyotrophy Finger syndactyly Nevus Depressivity Camptodactyly Abnormal heart morphology Patent ductus arteriosus Postnatal growth retardation Ventricular septal defect Abnormal cardiac septum morphology Recurrent infections Facial asymmetry Fever Cortical dysplasia Abnormality of the nervous system Short philtrum Down-sloping shoulders Short thumb Widely spaced teeth Thick lower lip vermilion EEG abnormality Small hand Brain atrophy Apnea Cupped ear Kyphosis Neurological speech impairment Joint laxity Nasal speech Hyperactivity Abnormal hair pattern Intellectual disability, mild Hypogonadism Hypoplasia of the zygomatic bone Aphasia Dolichocephaly Hydrocephalus Sparse eyebrow Cutaneous syndactyly Obesity Large hands Radial deviation of finger Hyperhidrosis Polyhydramnios Hypoplasia of the maxilla Deep plantar creases Recurrent urinary tract infections Hypoplasia of penis Hyperlordosis Hyporeflexia Wide nose Shuffling gait Irritability Respiratory distress Severe global developmental delay Feeding difficulties Narrow palpebral fissure Preauricular skin tag Long philtrum Sleep disturbance Growth hormone deficiency Delayed myelination Abnormality of the voice Ankyloglossia Sparse and thin eyebrow Single transverse palmar crease Microretrognathia Proximal placement of thumb Hoarse voice Abnormality of the thorax Cafe-au-lait spot Autistic behavior Small nail Coxa valga Small for gestational age Memory impairment Cubitus valgus Relative macrocephaly Cachexia Acanthosis nigricans Gynecomastia Intention tremor Prominent nose Open bite Macroglossia Joint hypermobility Bulbous nose Delayed puberty Synophrys Coarse facial features Gait ataxia Broad-based gait Abnormality of the musculature Developmental regression Abnormality of the vasculature Sporadic Muscular hypotonia of the trunk Absent fingernail Absent toenail Abnormality of toe Moderately short stature Mood swings Small earlobe Truncal obesity Panhypopituitarism Scaphocephaly Bilateral choanal atresia Striae distensae Hypopituitarism Cerebellar vermis atrophy Cortical gyral simplification Abdominal obesity Gastrointestinal atresia Slender finger Language impairment Bicuspid aortic valve Large earlobe Aortic regurgitation Oculomotor apraxia Aortic aneurysm Pyloric stenosis Drowsiness Overfolded helix Anal stenosis Pulmonary artery stenosis Misalignment of teeth Broad hallux phalanx Obsessive-compulsive behavior Ulnar deviation of finger Abnormal eyebrow morphology External ear malformation Inverted nipples Submucous cleft hard palate Bronchitis Supernumerary nipple Ectopic kidney Bifid scrotum Chronic constipation Tracheal stenosis Poor suck Sensorineural hearing impairment Bowing of the long bones Choanal atresia Low posterior hairline Premature birth Sepsis Anal atresia Conductive hearing impairment Recurrent respiratory infections Abnormality of the skeletal system Neoplasm Pulmonary artery sling Low hanging columella Generalized muscle hypertrophy Uplifted earlobe Typical absence seizures Atypical absence seizures Esodeviation Happy demeanor Subglottic stenosis Broad eyebrow Prominent nasal tip Broad columella Bruxism Aplasia/Hypoplasia of the cerebellum Abnormality of the genitourinary system Abnormality of digit Recurrent bronchitis Frontal bossing Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Conspicuously happy disposition Long palm Large fleshy ears Flared nostrils Dysplastic corpus callosum Anisocoria Toe clinodactyly Unilateral cryptorchidism Cerebral cortical atrophy Thick hair Interrupted aortic arch Intestinal atresia Thick nasal alae Wide nasal base Abnormality of nervous system morphology Microphallus High anterior hairline Insomnia Overlapping fingers Thick upper lip vermilion Vomiting Constipation Absence seizures Febrile seizures Aganglionic megacolon Postnatal microcephaly Recurrent otitis media Broad neck Coarctation of aorta Sparse scalp hair Otitis media Sloping forehead Abdominal distention Tetralogy of Fallot Esotropia Truncus arteriosus Focal seizures Vesicoureteral reflux Delayed eruption of teeth Everted lower lip vermilion Cleft upper lip Short 5th finger Coloboma Anxiety Telecanthus Hydronephrosis Choanal stenosis Pectus carinatum Multiple joint contractures Coma Abnormality of movement Athetosis X-linked dominant inheritance Narrow forehead Spastic tetraplegia Urinary incontinence Tetraplegia Cerebral calcification Increased serum lactate Abnormality of the foot Clonus Inability to walk Joint stiffness Neonatal hypotonia Hypothyroidism Proptosis Congenital onset Dystonia Dysarthria Ataxia Long uvula Choreoathetosis Leukodystrophy Hypoplasia of eyelid Abnormal conjugate eye movement Furrowed tongue Progressive spastic paraplegia Facial hypotonia Multiple cafe-au-lait spots Lower limb hyperreflexia Decreased body weight Poor speech Underfolded superior helices Stahl ear Prominent antihelix CNS hypomyelination Increased thyroid-stimulating hormone level Rotary nystagmus Hypoplasia of the musculature Delayed CNS myelination Abnormality of the neck Macroorchidism Central hypotonia Myopathic facies Poor head control Type I diabetes mellitus Ventral hernia Microtia, third degree Lower limb hypertonia Dry skin Cutis laxa Hypertrichosis Omphalocele Thin skin Ambiguous genitalia Microdontia Dental malocclusion Short metacarpal Abnormality of skin pigmentation Corneal opacity Redundant skin Microtia Sparse hair Umbilical hernia Hand clenching Aqueductal stenosis Hemiplegia/hemiparesis Paraparesis Spastic paraparesis Lumbar hyperlordosis Sacral dimple Atresia of the external auditory canal Ablepharon Breast hypoplasia Absent hair Cryptophthalmos Abnormality of female external genitalia Short upper lip Absent nipple Abnormal nasal morphology Overbite Excessive wrinkled skin Conical tooth High-frequency hearing impairment Ectropion Labial hypoplasia Aplasia/Hypoplasia of the nipples Abnormality of finger Absent eyelashes Corneal erosion Shallow orbits Hypoplastic nipples Abnormality of the mouth Absent eyebrow Short chin Diastema Low frustration tolerance Tremor Edema Generalized seizures Full cheeks Round face Carious teeth Dyspnea Facial palsy Kyphoscoliosis Respiratory failure Renal insufficiency Low-set ears Dehydration Hypoglycosylation of alpha-dystroglycan Hypoplasia of the pyramidal tract Thoracic hemivertebrae Lobar holoprosencephaly Myocardial fibrosis Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Buphthalmos Cyanosis Elbow flexion contracture Ankle contracture Large face Cold-induced sweating Facial tics Smooth tongue Unexplained fevers Hypernatremic dehydration Bilateral camptodactyly Hypopnea Temperature instability Velopharyngeal insufficiency Central apnea Phimosis Trismus Narrow nose Functional respiratory abnormality Episodic fever Acute kidney injury Disproportionate tall stature Overlapping toe Opisthotonus Limited elbow extension Keratitis Cerebellar cyst Retinal dysplasia Alopecia areata Areflexia Abnormality of the cerebral white matter Muscular dystrophy Congenital cataract Arthrogryposis multiplex congenita Hip dislocation Rigidity Glaucoma Brachycephaly Cerebellar hypoplasia Elevated serum creatine phosphokinase Retinal detachment Respiratory insufficiency Infantile onset Optic atrophy Myopathy Milia Muscle weakness Cataract Talipes calcaneovarus Small forehead Dilated cardiomyopathy Abnormal cerebellum morphology Weak cry Skeletal muscle hypertrophy Anencephaly Transposition of the great arteries Atrophy/Degeneration affecting the brainstem Spinal rigidity Cephalocele Congenital muscular dystrophy Calf muscle hypertrophy Increased variability in muscle fiber diameter Hypoplasia of the brainstem Mask-like facies Cerebellar vermis hypoplasia Holoprosencephaly Lissencephaly Plagiocephaly Hemivertebrae Knee flexion contracture Bradycardia EMG abnormality Congenital hip dislocation Pachygyria Encephalocele Branchial fistula
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