Delayed speech and language development, and Tapered finger

Diseases related with Delayed speech and language development and Tapered finger

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Tapered finger that can help you solving undiagnosed cases.


Top matches:

High match GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MONDO DOID UMLS

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST

X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST Is also known as mental retardation and macrocephaly syndrome;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Flexion contracture
  • Delayed speech and language development


SOURCES: OMIM UMLS DOID MONDO ORPHANET MESH

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Related symptoms:

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


SOURCES: UMLS DOID MONDO OMIM GARD

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

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Other less relevant matches:

High match 6Q16 DELETION SYNDROME

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to deletion 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET

More info about 6Q16 DELETION SYNDROME

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

High match NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: OMIM

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

High match TEMPLE-BARAITSER SYNDROME; TMBTS

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME; TMBTS Is also known as mental retardation, severe, and absent nails of hallux and pollex;severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; tmbts

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: SCTID EFO MESH MONDO GARD OMIM ORPHANET UMLS

More info about TEMPLE-BARAITSER SYNDROME; TMBTS

High match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS MONDO OMIM

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

High match WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS

Wilson-Turner syndrome is an X-linked recessive neurologic disorder characterized by intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Females are unaffected (Wilson et al., 1991).

WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS Is also known as mental retardation, x-linked, syndromic 6;mrxs6, mental retardation, x-linked, with gynecomastia and obesity;wts; x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

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


SOURCES: DOID ORPHANET MONDO OMIM MESH SCTID GARD UMLS

More info about WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2

EIEE2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 Is also known as infantile spasm syndrome, x-linked 2;issx2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: UMLS ORPHANET OMIM MESH MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Tapered finger

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Tapered finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Absent speech Cerebral atrophy Hypertelorism Spasticity Muscular hypotonia Short stature Autosomal dominant inheritance Hypoplasia of the corpus callosum Pica Feeding difficulties Wide nasal bridge Obesity Infantile onset Anteverted nares Intellectual disability, severe Downslanted palpebral fissures Delayed myelination Short foot Visual impairment Intellectual disability, profound Epicanthus Short palm

Rare Symptoms - Less than 30% cases


Kyphoscoliosis Blindness Arrhythmia Misalignment of teeth Cognitive impairment Scoliosis Full cheeks EEG abnormality Brachycephaly Low-set ears Strabismus Developmental regression Pes cavus Generalized myoclonic seizures Wide intermamillary distance X-linked dominant inheritance Small hand Deeply set eye Microtia Pes planus Cryptorchidism Motor delay Micrognathia Poor eye contact Thick vermilion border Tetraparesis Short neck Depressed nasal bridge Hearing impairment Stereotypy Hypermetropia Hip dysplasia Upslanted palpebral fissure Epileptic encephalopathy Cortical visual impairment Hypsarrhythmia Nystagmus Abnormality of the pinna Poor speech Gastroesophageal reflux Intellectual disability, mild Dystonia Constipation Flexion contracture Narrow mouth Macrocephaly Autistic behavior Thin upper lip vermilion Macrotia Prominent nasal bridge Ureterocele Microcornea Micropenis Blepharophimosis Nephrotic syndrome X-linked recessive inheritance Carious teeth Flat face Microdontia Broad neck Short palpebral fissure Kyphosis Coma Cataract Scrotal hypoplasia Polymicrogyria Overfolded helix Hypospadias Osteopenia Absent nail of hallux High anterior hairline Thick nasal alae Small thenar eminence Frontal upsweep of hair Pseudoepiphyses Flat forehead Pseudoepiphysis of the thumb Hypoplastic thumbnail Posteriorly rotated ears Focal segmental glomerulosclerosis Glomerulosclerosis Cleft palate Macule Microphthalmia Pectus excavatum Hypogonadism Midface retrusion Retrognathia Thick eyebrow Neurological speech impairment Spastic tetraparesis Sleep disturbance Focal seizures Thick lower lip vermilion Sloping forehead Apraxia Inability to walk Postnatal microcephaly Progressive microcephaly Infantile spasms Broad forehead Loss of consciousness Developmental stagnation Hyperventilation Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis Lumbar kyphoscoliosis Severe global developmental delay Respiratory failure Proteinuria Emotional lability Delayed puberty Short columella Decreased testicular size Broad nasal tip Specific learning disability Cerebellar hypoplasia Gynecomastia Hypogonadotrophic hypogonadism Prominent supraorbital ridges Prominent forehead Decreased muscle mass Truncal obesity Malar prominence Short ear Nevus Cerebellar atrophy Encephalopathy Myoclonus Low hanging columella Adducted thumb Diffuse mesangial sclerosis Delayed gross motor development Macroorchidism Ankle contracture Long fingers Pruritus Abnormality of movement Hirsutism Limited elbow extension Holoprosencephaly Absent nares Knee flexion contracture Pointed chin Abnormality of the fingernails Nephrocalcinosis Calcinosis Neonatal onset Muscle fibrillation Focal motor seizures Female infertility Growth delay Optic atrophy Clinodactyly of the 5th finger Short chin Impulsivity Anxiety Umbilical hernia High palate Myopia Abnormality of cardiovascular system morphology Hyperactivity Muscle weakness Autism High forehead Bulbous nose Round face Hernia Microretrognathia Polyphagia Narrow nose Hypotelorism Ventriculomegaly Anonychia Prominent nose Malar flattening Neonatal hypotonia Wide mouth Short distal phalanx of finger Downturned corners of mouth Wide nose Hyperreflexia Open mouth Hypertonia Broad thumb Small nail Short thumb Low anterior hairline Intellectual disability, progressive Broad hallux Myopathic facies Global brain atrophy Long philtrum Ptosis Talipes equinovarus Single transverse palmar crease Abnormality of the skeletal system Long face X-linked inheritance Clinodactyly Gait ataxia Intellectual disability, moderate Difficulty walking Coarse facial features Cerebellar vermis hypoplasia Autosomal recessive inheritance Oxycephaly Drooling Optic nerve hypoplasia Overlapping toe Facial hypotonia Bruxism Mild microcephaly Happy demeanor EEG with generalized slow activity



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