Delayed speech and language development, and Hypothyroidism

Diseases related with Delayed speech and language development and Hypothyroidism

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


Top matches:

Low match ACERULOPLASMINEMIA

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as ;hereditary ceruloplasmin deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Ataxia
  • Anemia
  • Delayed speech and language development
  • Dysarthria


SOURCES: GARD SCTID UMLS OMIM MONDO DOID ORPHANET

More info about ACERULOPLASMINEMIA

Low match PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 Is also known as pituitary hormone deficiency, combined, with rigid cervical spine, deafness, sensorineural, with pituitary dwarfism;non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM MONDO ORPHANET UMLS

More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

Low match SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF Is also known as ;retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: OMIM ORPHANET

More info about SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF

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Other less relevant matches:

Low match GABRIELE-DE VRIES SYNDROME; GADEVS

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME; GADEVS Is also known as ;yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM UMLS MONDO ORPHANET

More info about GABRIELE-DE VRIES SYNDROME; GADEVS

Low match ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Cryptorchidism
  • Depressed nasal bridge


SOURCES: ORPHANET

More info about ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE

Low match NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD

NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD Is also known as ;imnepd

Related symptoms:

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


SOURCES: OMIM UMLS ORPHANET MONDO

More info about NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD

Low match ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2

Acrodysostosis-2 is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012).For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS OMIM MONDO

More info about ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2

Low match MENTAL RETARDATION, X-LINKED 98; MRX98

X-linked mental retardation-98 is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).

MENTAL RETARDATION, X-LINKED 98; MRX98 Is also known as ;

Related symptoms:

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


SOURCES: UMLS OMIM SCTID MONDO ORPHANET

More info about MENTAL RETARDATION, X-LINKED 98; MRX98

Low 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

Low match POTOCKI-LUPSKI SYNDROME; PTLS

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

POTOCKI-LUPSKI SYNDROME; PTLS Is also known as chromosome 17p11.2 duplication syndrome;potocki-lupski syndrome; trisomy 17p11.2

Related symptoms:

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


SOURCES: OMIM MONDO NCIT GARD UMLS ORPHANET DOID SCTID

More info about POTOCKI-LUPSKI SYNDROME; PTLS

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Hyperactivity Feeding difficulties Brachydactyly Diabetes mellitus Autism Microcephaly Failure to thrive Congenital onset Hearing impairment Delayed myelination Abnormality of the skeletal system Sensorineural hearing impairment Anteverted nares Short nose Autosomal recessive inheritance Congenital hypothyroidism Strabismus Cryptorchidism Absent speech Scoliosis Midface retrusion Mandibular prognathia Round face Hypertelorism Motor delay Ataxia Pica Malar flattening Intrauterine growth retardation Neonatal hypotonia Dysarthria

Rare Symptoms - Less than 30% cases


Flexion contracture High palate Cognitive impairment Feeding difficulties in infancy Ptosis Micrognathia Behavioral abnormality Thin upper lip vermilion Ventriculomegaly Hyporeflexia Tremor Upslanted palpebral fissure Muscular hypotonia Cerebellar atrophy Myopia Downslanted palpebral fissures Abnormality of the dentition Postnatal microcephaly Increased intracranial pressure Short metacarpal Obesity Short phalanx of finger Hypospadias Depressed nasal bridge Accelerated skeletal maturation Short metatarsal Cone-shaped epiphysis Dystonia Mild short stature Spinal canal stenosis Blue irides Fair hair Broad forehead Anxiety Red hair Hypertension Posteriorly rotated ears Nystagmus Stereotypy EEG abnormality Gastroesophageal reflux Macrotia Severe global developmental delay Hypoplasia of the corpus callosum Spasticity Seizures Narrow forehead Type I diabetes mellitus Growth hormone deficiency Open mouth Underdeveloped nasal alae Hypoplasia of the maxilla Epicanthus Gait ataxia Shawl scrotum Poor eye contact Drooling Intellectual disability, severe Thin vermilion border Clonus Poor speech Skeletal muscle atrophy Hyperreflexia Tented upper lip vermilion Single transverse palmar crease Autistic behavior Esotropia Irritability Abnormality of the musculature Spastic paraplegia Prominent nasal bridge Central hypothyroidism Long nose Abnormality of movement Nephrotic syndrome Abnormality of the nervous system Finger clinodactyly Abnormality of the pinna Tics Pectus excavatum Expressive language delay Generalized seizures Poor fine motor coordination Babinski sign Proptosis Central sleep apnea Pes planus Status epilepticus Gait disturbance Absence seizures Protruding tongue Protruding ear Camptodactyly of finger Prominent nasal tip Tetraparesis Joint stiffness Coarse hair Hypsarrhythmia Triangular face Hypocholesterolemia Increased thyroid-stimulating hormone level Wide nasal bridge Cleft palate Underfolded superior helices Stahl ear Abnormal conjugate eye movement Prominent antihelix Rotary nystagmus Dysphagia Hypoplasia of the musculature Delayed CNS myelination Abnormality of the neck Macroorchidism Hypoplasia of the zygomatic bone Central hypotonia Hamartoma Frontal bossing Intellectual disability, mild Language impairment Smooth philtrum Dental malocclusion Abnormality of the cardiovascular system Dental crowding Hypercholesterolemia Patent foramen ovale Trigonocephaly Hypermetropia Abnormality of dental morphology Abnormality of cardiovascular system morphology Abnormality of the kidney Small for gestational age Attention deficit hyperactivity disorder Apnea Low-set, posteriorly rotated ears Wide mouth Sporadic Sleep apnea Failure to thrive in infancy Abnormality of the foot Generalized muscle weakness Abnormality of chromosome segregation Inability to walk Choreoathetosis Athetosis X-linked dominant inheritance Spastic tetraplegia Urinary incontinence Tetraplegia Short philtrum Cerebral calcification Bifid uvula Paraplegia Long face Oral-pharyngeal dysphagia Abnormality of the pharynx Speech apraxia Echolalia High hypermetropia Open bite Infantile muscular hypotonia Hyperactive deep tendon reflexes Biparietal narrowing Hallux valgus Bowel incontinence Generalized amyotrophy Aphasia Myopathic facies Poor head control Abnormal renal morphology CNS hypomyelination Leukodystrophy Dysphasia Bilateral single transverse palmar creases Intellectual disability, progressive Narrow face Abnormality of the vasculature Increased serum lactate Progressive Postnatal growth retardation Pituitary hypothyroidism Severe short stature Jaundice Skeletal dysplasia Hyperlordosis Carious teeth Joint hypermobility Small nail Cyanosis Hyperextensible skin Increased body weight Hypopituitarism Thoracic kyphosis Panhypopituitarism Adrenocorticotropic hormone deficiency Kyphosis Gonadotropin deficiency Anterior pituitary hypoplasia Lumbar kyphosis Pituitary dwarfism Prolactin deficiency Abnormal anterior horn cell morphology Thoracolumbar kyphoscoliosis Hypothalamic luteinizing hormone-releasing hormone deficiency Long philtrum Coma Rod-cone dystrophy Glaucoma High forehead Micropenis Short neck Broad nasal tip Confusion Anemia Hypertonia Congestive heart failure Depressivity Dementia Rigidity Abnormal pyramidal sign Difficulty walking Retinal degeneration Adult onset Cirrhosis Parkinsonism Chorea Neurodegeneration Myopathy Abnormality of extrapyramidal motor function Memory impairment Torticollis Involuntary movements Polyuria Increased serum ferritin Blepharospasm Cogwheel rigidity Scanning speech Refractory anemia Decreased serum ceruloplasmin Elevated hepatic iron concentration Decreased serum iron Aceruloplasminemia Sparse hair Broad thumb Aggressive behavior Ankle contracture Talipes equinovarus Brachycephaly Distal muscle weakness Hip dislocation Progressive cerebellar ataxia Decreased fetal movement Exotropia Hepatic fibrosis Progressive microcephaly Sensorimotor neuropathy Proximal placement of thumb Steatorrhea Exocrine pancreatic insufficiency Pancreatic fibrosis Peripheral neuropathy Autosomal dominant inheritance Acrania Small hand Eczema Asthma Rhinitis Chronic rhinitis Thyroid hormone receptor defect Clinodactyly of the 5th finger X-linked recessive inheritance Cerebral cortical atrophy Constipation Clinodactyly Muscular hypotonia of the trunk Hepatomegaly Muscle weakness Corneal dystrophy Periorbital fullness Progressive hearing impairment Wide nasal base Broad distal phalanx of finger Broad columella Craniosynostosis Facial asymmetry Abnormality of the cerebral white matter Gliosis Waddling gait Thick lower lip vermilion Pointed chin Sparse eyebrow Esophageal atresia Lacrimal duct stenosis Congenital craniofacial dysostosis Mild intrauterine growth retardation Hypogonadism Specific learning disability Short toe Hypocalcemia Hyperphosphatemia Elevated circulating parathyroid hormone level Pseudohypoparathyroidism Hypoplastic vertebral bodies Elevated calcitonin Cerebral venous thrombosis Narrow vertebral interpedicular distance Hypoplasia of the nasal bone Absent/hypoplastic paranasal sinuses Receptive language delay



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