Delayed speech and language development, and Toe syndactyly
Diseases related with Delayed speech and language development and Toe syndactyly
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Toe syndactyly that can help you solving undiagnosed cases.
Top matches:
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
5Q14.3 MICRODELETION SYNDROME Is also known as del(5)(q14.3); monosomy 5q14.3
Related symptoms:
- Seizures
- Strabismus
- Muscular hypotonia
- Feeding difficulties
- Delayed speech and language development
SOURCES:
ORPHANET
More info about 5Q14.3 MICRODELETION SYNDROME
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Other less relevant matches:
Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
SOURCES:
OMIM
UMLS
MONDO
More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7
Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).
Related symptoms:
- Intellectual disability
- Seizures
- Scoliosis
- Strabismus
- Motor delay
SOURCES:
ORPHANET
More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY
Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.
SIALURIA Is also known as sialuria, french type;sialuria, french type
Related symptoms:
- Autosomal dominant inheritance
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
SOURCES:
OMIM
GARD
MONDO
ORPHANET
DOID
More info about SIALURIA
The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.
DUPLICATION/INVERSION 15Q11 Is also known as invdup(15); isodicentric 15 chromosome; non-distal tetrasomy 15q; non-telomeric tetrasomy 15q; idic(15)
Related symptoms:
- Seizures
- Generalized hypotonia
- Microcephaly
- Growth delay
- Strabismus
SOURCES:
MONDO
UMLS
ORPHANET
MESH
GARD
More info about DUPLICATION/INVERSION 15Q11
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; AMS
Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44 Is also known as ;
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Pica
SOURCES:
DOID
MONDO
UMLS
OMIM
ORPHANET
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44
Top 5 symptoms//phenotypes associated to Delayed speech and language development and Toe syndactyly
Symptoms // Phenotype |
% cases |
Seizures |
Common - Between 50% and 80% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Intellectual disability |
Uncommon - Between 30% and 50% cases
|
2-3 toe syndactyly |
Uncommon - Between 30% and 50% cases
|
Feeding difficulties |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Delayed speech and language development and Toe syndactyly. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Syndactyly
Generalized hypotonia
Strabismus
Microcephaly
Autosomal dominant inheritance
Micrognathia
Myopia
Epicanthus
Short nose
Hearing impairment
Hyperactivity
Autosomal recessive inheritance
Long philtrum
Downslanted palpebral fissures
Dental crowding
Motor delay
Stereotypy
Scoliosis
Brachydactyly
High palate
Aggressive behavior
Frontal bossing
Abnormal facial shape
Attention deficit hyperactivity disorder
Clinodactyly
Synophrys
Pica
Rare Symptoms - Less than 30% cases
High forehead
Pes planus
Precocious puberty
Hoarse voice
Cryptorchidism
Flexion contracture
Short philtrum
Cognitive impairment
Hypertelorism
Poor speech
Abnormality of the genital system
Hypoplastic nipples
Hypoplasia of the maxilla
Mild global developmental delay
Abnormality of brain morphology
Low-set ears
Intellectual disability, mild
Intellectual disability, severe
Fine hair
Brachycephaly
Thin vermilion border
Dental malocclusion
Underdeveloped nasal alae
Pectus carinatum
Optic atrophy
Absent speech
Visual impairment
Anteverted nares
Muscular hypotonia
Hypoplasia of the corpus callosum
Growth delay
Joint hypermobility
Hernia
Thin upper lip vermilion
Upslanted palpebral fissure
Cleft palate
Talipes equinovarus
Autistic behavior
Pectus excavatum
Deeply set eye
Thick eyebrow
Congenital onset
Broad forehead
Sparse hair
Camptodactyly
Microtia
Omphalocele
Corneal opacity
Dry skin
Microdontia
Abnormality of skin pigmentation
Short metacarpal
Thin skin
Clinodactyly of the 5th finger
Ambiguous genitalia
Ventricular septal defect
Hypoplasia of penis
Finger syndactyly
Umbilical hernia
Abnormality of the pinna
Abnormality of the mitochondrion
Drooling
Unilateral renal agenesis
Gonadal dysgenesis
Echolalia
Neurodevelopmental delay
Severe expressive language delay
Spinal deformities
Long hallux
Expressive language delay
Broad nasal tip
Low-set, posteriorly rotated ears
Wide mouth
Hypogonadism
Self-biting
Severe receptive language delay
Prolonged prothrombin time
Depressed nasal bridge
Periorbital fullness
Prolonged partial thromboplastin time
Malar flattening
Upper airway obstruction
Tetralogy of Fallot
Camptodactyly of finger
Hypertrichosis
Conical tooth
Cutis laxa
Facial asymmetry
Hypoplasia of eyelid
Ventral hernia
Long uvula
Hyperreflexia
Dysphagia
Abnormality of the skeletal system
Kyphosis
Behavioral abnormality
Recurrent infections
Gait ataxia
Macrotia
Abnormal cardiac septum morphology
Short distal phalanx of finger
Ablepharon
Tapered finger
Hypodontia
Thick vermilion border
Short phalanx of finger
Syncope
Low anterior hairline
Abnormality of the hand
Obsessive-compulsive behavior
Absent radius
Ventricular extrasystoles
Hyperacusis
Slanting of the palpebral fissure
Microtia, third degree
Absent hair
Sacral dimple
Absent eyelashes
Redundant skin
Atresia of the external auditory canal
Abnormality of the outer ear
Ectropion
Short chin
Cutaneous syndactyly
Sparse eyebrow
Absent eyebrow
Abnormality of the mouth
Shallow orbits
Corneal erosion
Hypoplasia of the zygomatic bone
Abnormality of finger
Cryptophthalmos
Abnormal hair pattern
Aplasia/Hypoplasia of the nipples
Labial hypoplasia
High-frequency hearing impairment
Breast hypoplasia
Hyperkinesis
Excessive wrinkled skin
Overbite
Abnormal nasal morphology
Absent nipple
Short upper lip
Abnormality of female external genitalia
Dysostosis multiplex
Macrodontia of permanent maxillary central incisor
Protuberant abdomen
Mitral regurgitation
Rotary nystagmus
Ankyloglossia
Muscular hypotonia of the trunk
Polymicrogyria
Bifid uvula
Heterotopia
Cortical dysplasia
Gastroesophageal reflux
Anxiety
Lumbar hyperlordosis
Exotropia
Blue sclerae
Narrow palate
Vertebral fusion
Self-injurious behavior
Hyperplasia of the maxilla
Thoracic kyphoscoliosis
Butterfly vertebrae
Exaggerated median tongue furrow
Short stature
Failure to thrive
Cataract
Cortical visual impairment
Chorea
Microphthalmia
Intellectual disability, borderline
Obesity
Pes cavus
Autism
EEG abnormality
X-linked dominant inheritance
Absence seizures
Nasal speech
Increased body weight
Overweight
Shyness
EEG with centrotemporal focal spike waves
Abnormality of movement
Ventriculomegaly
Open mouth
Optic nerve hypoplasia
Agenesis of cerebellar vermis
Abnormality of nervous system morphology
Frontal cortical atrophy
Ataxia
Nystagmus
Spasticity
Kyphoscoliosis
Joint laxity
Abnormality of the dentition
Delayed skeletal maturation
Episodic abdominal pain
Elevated hepatic transaminase
Hepatomegaly
Pain
Wide nasal bridge
Macrocephaly
Splenomegaly
Abnormality of metabolism/homeostasis
Inguinal hernia
Oxycephaly
Prominent forehead
Coarse facial features
Abdominal pain
4-5 finger syndactyly
Hepatosplenomegaly
Developmental regression
Smooth philtrum
High, narrow palate
Macroglossia
Low posterior hairline
Memory impairment
Generalized hirsutism
Cholelithiasis
Sleep apnea
Thoracic hypoplasia
2-4 toe cutaneous syndactyly
Fifth finger distal phalanx clinodactyly
Narrow mouth
Abnormality of dental enamel
Telecanthus
Short foot
Delayed eruption of teeth
Triangular face
Microcornea
Small hand
Short palpebral fissure
Sparse scalp hair
Large fontanelles
Overgrowth
Sparse eyelashes
Persistent pupillary membrane
Abnormality of dental morphology
Hyperostosis
Long nose
Basal ganglia calcification
Narrow nose
Spinal cord compression
Large earlobe
Hypoplasia of teeth
Cutaneous syndactyly of toes
Cranial hyperostosis
Broad long bones
Aplasia of the 1st metacarpal
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