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:

Low match CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME

recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME Is also known as ;trisomy xp11.22-p11.23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pica
  • Delayed speech and language development
  • Intellectual disability, severe


SOURCES: SCTID DOID ORPHANET MESH UMLS MONDO GARD OMIM

More info about CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME

Low match 5Q14.3 MICRODELETION SYNDROME

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

Low match YOU-HOOVER-FONG SYNDROME; YHFS

YOU-HOOVER-FONG SYNDROME; YHFS Is also known as ;you-hoover-fong syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM ORPHANET MONDO

More info about YOU-HOOVER-FONG SYNDROME; YHFS

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Other less relevant matches:

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

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

Low match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

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

Low match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as oddd, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, odod, autosomal recessive

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Micrognathia


SOURCES: GARD OMIM UMLS MESH MONDO

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Low match SIALURIA

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

Low match DUPLICATION/INVERSION 15Q11

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

Low 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; AMS

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44

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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