Delayed speech and language development, and Pectus excavatum

Diseases related with Delayed speech and language development and Pectus excavatum

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


Top matches:

Medium match MENTAL RETARDATION, X-LINKED 93; MRX93

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: MESH OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

Medium 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

Medium match SOTOS SYNDROME 2; SOTOS2

Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.

SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome;sotos syndrome 2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET UMLS OMIM MONDO

More info about SOTOS SYNDROME 2; SOTOS2

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Other less relevant matches:

Medium match MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC

MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC Is also known as ;congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Scoliosis
  • Motor delay
  • Cryptorchidism


SOURCES: MONDO OMIM ORPHANET UMLS

More info about MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC

Medium 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

Medium match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as noonan-neurofibromatosis syndrome, neurofibromatosis with noonan phenotype

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Scoliosis


SOURCES: OMIM ORPHANET

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH

Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by microcephaly, impaired ocular movements, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Female carriers may be mildly affected (summary by Schroer et al., 2010 and Pescosolido et al., 2014).

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH Is also known as angelman-like syndrome, x-linked, mental retardation, microcephaly, epilepsy, and ataxia syndrome;x-linked angelman-like syndrome; x-linked intellectual disability, south african type; x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome

Related symptoms:

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


SOURCES: ORPHANET MONDO GARD OMIM DOID UMLS MESH SCTID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR Is also known as snyder-robinson mental retardation syndrome;srs;snyder-robinson syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: SCTID MESH MONDO UMLS ORPHANET OMIM GARD DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

Medium 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

Medium match SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

gene (13q13.1), which encodes the protein spartin.

SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 Is also known as troyer syndrome, spastic paraparesis, childhood-onset, with distal muscle wasting, spastic paraplegia, autosomal recessive, troyer type;childhood-onset spastic paraparesis-distal muscle wasting syndrome; spg20; troyer syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: DOID ORPHANET MESH GARD OMIM MONDO SCTID UMLS

More info about SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Pectus excavatum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pica Cryptorchidism Downslanted palpebral fissures Motor delay Microcephaly Hypertelorism Epicanthus Autosomal dominant inheritance Short stature Long face Brachydactyly Macrocephaly High palate Flexion contracture Muscle weakness Low-set ears Narrow face Wide intermamillary distance Mandibular prognathia Narrow mouth Intellectual disability, mild Hyperreflexia Dysphagia Kyphoscoliosis Clinodactyly Absent speech Feeding difficulties Clonus Autosomal recessive inheritance Pes planus Gait ataxia Oxycephaly Macrotia Nystagmus Cleft palate

Rare Symptoms - Less than 30% cases


Drooling Sleep disturbance Upslanted palpebral fissure Midface retrusion Abnormality of the hand Short neck Camptodactyly Dysarthria Abnormality of the pinna Decreased muscle mass Abnormality of the foot Thick eyebrow Unsteady gait Slender finger Posteriorly rotated ears Cerebellar atrophy Tapered finger Cognitive impairment Abnormal facial shape Growth delay Poor speech Specific learning disability Webbed neck Abnormality of the skeletal system Behavioral abnormality Skeletal muscle atrophy Intellectual disability, profound Facial asymmetry Ptosis Gastroesophageal reflux Synophrys Broad neck Dental crowding Micrognathia Overgrowth Ventriculomegaly Ataxia Hearing impairment Long fingers Congenital onset Joint laxity Pectus carinatum Tall stature Anxiety Abnormality of movement Spasticity X-linked recessive inheritance Kyphosis High forehead Muscular hypotonia Strabismus Postural instability Disproportionate tall stature Sparse eyebrow Smooth philtrum Abnormality of the nares Bulbous nose Overbite Broad-based gait Arachnodactyly Nasal speech High, narrow palate Hyperpigmentation of the skin Spastic dysarthria High myopia Upper limb spasticity Recurrent fractures Thick lower lip vermilion Speech apraxia Generalized myoclonic seizures Bifid uvula Spontaneous abortion Spastic paraparesis Abnormal hand morphology Slender build Loss of ability to walk in first decade Long nose Bowel incontinence Atrophy/Degeneration affecting the brainstem Hyperkinesis Dyslexia Suicidal ideation Abnormality of the nose Happy demeanor Death in early adulthood Inappropriate laughter Photosensitive tonic-clonic seizures Conspicuously happy disposition Morphea Prominent nasal bridge Myopia Anteverted nares Gait disturbance Hyperplasia of midface Panic attack Talipes equinovarus Knee clonus Osteoporosis Abnormality of brain morphology Brachycephaly Myoclonus Intellectual disability, moderate Short philtrum Epileptic spasms Abnormality of the thumb Hyperextensibility of the finger joints Difficulty walking Hammertoe Emotional lability Hoarse voice Childhood onset Mild global developmental delay Ventricular extrasystoles Hyperacusis Slanting of the palpebral fissure Aplasia of the 1st metacarpal Babinski sign Pes cavus Constipation Hydronephrosis Spastic paraplegia Absent radius Genu valgum Lower limb muscle weakness Distal amyotrophy Dysmetria Joint hypermobility Short foot Paraplegia Gliosis Abnormal cerebellum morphology Prominent nose Psychosis Spastic gait Lower limb spasticity Impaired vibratory sensation Spastic diplegia Long hallux Aggressive behavior Small earlobe Hallucinations Dysuria Narrow palm Focal motor seizures Long palm Asymmetry of the ears Upper limb muscle weakness Short nose Long philtrum Recurrent infections Hyperactivity Thin upper lip vermilion Attention deficit hyperactivity disorder Obsessive-compulsive behavior Broad forehead Abnormal cardiac septum morphology Scleroderma Short distal phalanx of finger Hypodontia Thick vermilion border Short phalanx of finger Syncope Premature loss of teeth Low anterior hairline Cerebellar vermis atrophy Ankle clonus Slurred speech 2-3 toe syndactyly Dysphasia Encephalopathy Infantile muscular hypotonia Follicular hyperkeratosis EMG: myopathic abnormalities Poor head control Severe muscular hypotonia Increased variability in muscle fiber diameter Congenital muscular dystrophy Congenital contracture Mildly elevated creatine phosphokinase Multiple joint contractures Spinal rigidity Centrally nucleated skeletal muscle fibers Neck muscle weakness Weak cry Overweight Generalized joint laxity Dry skin Pes valgus Minicore myopathy Gastrostomy tube feeding in infancy Abnormal elasticity of skin Wide nasal bridge Hypoplasia of the corpus callosum Microphthalmia Hypospadias Osteopenia Blepharophimosis Microtia Carious teeth Short palm Respiratory insufficiency due to muscle weakness Limb muscle weakness Microcornea Rotary nystagmus Frontal bossing Prominent forehead Protruding ear Triangular face Pointed chin Cupped ear Thoracic kyphosis Visual impairment Syndactyly Toe syndactyly Chorea Blue sclerae Cortical visual impairment Ankyloglossia Delayed puberty Hypermetropia Everted lower lip vermilion Astigmatism Accelerated skeletal maturation Coxa valga Cutis marmorata Advanced eruption of teeth Myopathy Respiratory insufficiency Recurrent respiratory infections Respiratory failure Hyperkeratosis Neonatal hypotonia Muscular dystrophy Flat face Microdontia Abnormality of the thorax Open mouth Autism Feeding difficulties in infancy Abnormality of the eye Developmental regression Deeply set eye Arthrogryposis multiplex congenita Severe global developmental delay Joint hyperflexibility Narrow chest Ophthalmoplegia Abnormality of eye movement Neuronal loss in central nervous system Urinary incontinence X-linked dominant inheritance Dystonia Epileptic encephalopathy Generalized seizures Postnatal microcephaly Decreased body weight Truncal ataxia Intellectual disability, progressive Stereotypy Aplasia/Hypoplasia of the corpus callosum Cachexia Adducted thumb Mutism Involuntary movements Aplasia/Hypoplasia of the cerebellum Cerebral cortical atrophy Intellectual disability, severe Short palpebral fissure Relative macrocephaly Scrotal hypoplasia Overfolded helix Ureterocele Milia Depressed nasal bridge Nevus Tics Atrial septal defect Malar flattening Telecanthus Pulmonic stenosis Leukemia Low posterior hairline Cubitus valgus Pain Cafe-au-lait spot Fibroma Freckling Neurofibromas Acute lymphoblastic leukemia Secundum atrial septal defect Lisch nodules Prominent nasolabial fold Axillary freckling Optic nerve glioma Plexiform neurofibroma Inguinal freckling Superior pectus carinatum Pectus excavatum of inferior sternum Hyperextensible hand joints



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