Macrocephaly, and Hypothyroidism

Diseases related with Macrocephaly and Hypothyroidism

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

Top matches:

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Smith-Kingsmore syndrome is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).

MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME Is also known as minds syndrome|macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism|macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|smith-kingsmore syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Top 5 symptoms//phenotypes associated to Macrocephaly and Hypothyroidism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Hypothyroidism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Cryptorchidism Progressive macrocephaly Depressed nasal bridge Hearing impairment Intellectual disability, severe Micrognathia Hypertelorism Short stature Feeding difficulties Cataract Cognitive impairment Constipation Midface retrusion Macroglossia EEG abnormality Relative macrocephaly High palate Sleep apnea Failure to thrive Hepatomegaly Narrow mouth Abnormal facial shape Umbilical hernia Coarse facial features Frontal bossing Low-set ears Gynecomastia Splenomegaly

Rare Symptoms - Less than 30% cases

Fibroadenoma of the breast Spasticity Microcephaly Ataxia Downslanted palpebral fissures Transitional cell carcinoma of the bladder Colonic diverticula Varicocele Thyroid adenoma Angioid streaks of the fundus Hamartomatous polyposis Hashimoto thyroiditis Subcutaneous lipoma Skin tags Meningioma Hydrocele testis Furrowed tongue Ovarian cyst Dysphagia Diastasis recti Abnormality of the dentition Hypoglycemia Hernia Inguinal hernia Feeding difficulties in infancy Deeply set eye Obesity Abnormality of the skeletal system Strabismus Megalencephaly Accelerated skeletal maturation Amenorrhea Tetraplegia Neurological speech impairment Hydrocephalus Wide mouth Short nose Ptosis Muscular hypotonia Nystagmus Wide anterior fontanel Large for gestational age Progressive spasticity Hyperthyroidism Chorea Poor speech Macrotia Autism Pneumonia Depressivity Thyroiditis Developmental regression Goiter Palmoplantar hyperkeratosis Proptosis Intellectual disability, moderate Motor delay Growth delay Limb undergrowth Omphalocele Cardiomyopathy Dolichocephaly Dilatation Prominent occiput Diabetes mellitus Respiratory failure Asthma Pectus excavatum Drowsiness Breast carcinoma Intention tremor Abnormality of the cardiovascular system Short chin Myopia Intellectual disability, mild Hypoplasia of the maxilla Branchial cyst Abnormal heart valve morphology Epiphyseal dysplasia Metaphyseal irregularity Metaphyseal widening Posterior helix pit Recurrent upper respiratory tract infections Thickened skin Aortic valve stenosis Opacification of the corneal stroma Spastic tetraparesis Dysostosis multiplex Spinal canal stenosis Broad ribs Cervical myelopathy Prominent sternum Retinal fold Myelopathy Constrictive median neuropathy Adrenocortical carcinoma Flared iliac wings Disproportionate short-trunk short stature Aseptic necrosis Infra-orbital crease Ovoid vertebral bodies Hypoplastic iliac wing Large placenta Obstructive sleep apnea Thoracic kyphosis Hypoplasia of the odontoid process Decreased body weight Hirsutism Split hand Long ear Scheuermann-like vertebral changes Hypoplasia of the prostate Widely spaced toes Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Moderately short stature Diabetic ketoacidosis Camptodactyly of toe Respiratory distress Shortening of all distal phalanges of the fingers Large earlobe Short 5th finger Ketoacidosis Broad neck Broad foot Hypopituitarism Flexion contracture Edema Progressive neurologic deterioration Corneal opacity Tetraparesis Lumbar hyperlordosis Spastic tetraplegia Hip dysplasia Waddling gait Cervical cord compression Genu valgum Retinopathy Large intestinal polyposis Joint stiffness Apnea Congenital megaureter Abnormality of pancreas morphology Hepatosplenomegaly Adrenocortical cytomegaly Glaucoma Abnormality of the shape of the midface Cervical instability Thrombocytopenia Dermatan sulfate excretion in urine Pseudohypoparathyroidism Large fontanelles Rhabdomyosarcoma Cardiomegaly Otosclerosis Congenital diaphragmatic hernia Prominent nose Premature birth Vesicoureteral reflux Ureteral duplication Nephropathy Long face Abnormality of the hip bone Hypertrophic cardiomyopathy Polyhydramnios Mandibular prognathia Abnormality of earlobe Nephrolithiasis Tall stature Asymmetric growth Enlarged kidney Nephroblastoma Melanocytic nevus Neurodevelopmental delay Neuroblastoma Polycythemia Prominent metopic ridge Exocrine pancreatic insufficiency Neonatal hypoglycemia Arnold-Chiari malformation Nevus flammeus Multiple renal cysts Redundant skin Hemihypertrophy Gonadoblastoma Hypercalciuria Visceromegaly Hyperactivity Abnormality of cardiovascular system morphology Hypoplastic acetabulae Thin upper lip vermilion Polymicrogyria Elevated alpha-fetoprotein Smooth philtrum Narrow chest Coloboma Leiomyosarcoma Urogenital fistula High forehead Short distal phalanx of finger Prominent forehead Long philtrum Hypoplasia of the corpus callosum Ventriculomegaly Anterior wedging of L2 Anterior wedging of L1 Facial hemangioma Hepatoblastoma Iris coloboma Cleft palate Preeclampsia Neoplasm Short proximal phalanx of finger Intestinal polyp Deep plantar creases Perisylvian polymicrogyria Deep palmar crease Breech presentation Choroideremia Renal cyst Arachnoid cyst IgA deficiency Curly hair Anterior creases of earlobe Cafe-au-lait spot Rhizomelia Open mouth Thickened calvaria Bowel incontinence External genital hypoplasia Muscular hypotonia of the trunk Lower limb spasticity Aganglionic megacolon Intellectual disability, profound Neurodegeneration Severe global developmental delay Autistic behavior Respiratory tract infection Anxiety Aspiration Rigidity Gastroesophageal reflux Brachycephaly Recurrent respiratory infections Patent ductus arteriosus Absent speech Abnormality of metabolism/homeostasis Stereotypy Severe muscular hypotonia Malar flattening Facial hypotonia Hypertension Muscle weakness Hostility Infantile axial hypotonia Central hypoventilation Bruxism Chronic constipation Central hypotonia Drooling Hypoventilation Poor eye contact Myotonia Premature ovarian insufficiency Poor head control Optic nerve hypoplasia Tented upper lip vermilion Infantile muscular hypotonia Recurrent infections Myopathy Dysarthria Chronic diarrhea Anteverted nares Talipes equinovarus Anemia Interstitial pneumonitis Chronic lung disease Abnormal intestine morphology Type I diabetes mellitus Abnormal lung morphology Elevated serum creatine phosphokinase Hepatitis Malabsorption Autoimmunity Camptodactyly Posteriorly rotated ears Clinodactyly Diarrhea Delayed skeletal maturation Skeletal dysplasia Delayed speech and language development Wormian bones Increased T3/T4 ratio No permanent dentition Thyroid hormone receptor defect Long thorax Congenital hypothyroidism Hypercholesterolemia Coxa vara Congenital hip dislocation Joint laxity Increased body weight Hoarse voice Clumsiness Broad-based gait Delayed eruption of teeth Flat face Dry skin Hip dislocation Hyperreflexia Tremor Truncal obesity Diffuse demyelination of the cerebral white matter Sparse hair Abnormality of the pinna Micropenis Hypogonadism Skeletal muscle atrophy Peripheral neuropathy Visual impairment Microcoria Hypermetropia Hyperpigmented nevi Recurrent singultus Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Bulbar signs Blepharophimosis Delayed puberty Poor coordination Hyperpigmentation of the skin Abnormality of neuronal migration Hammertoe Prominent supraorbital ridges Scrotal hypoplasia Narrow palpebral fissure Hypergonadotropic hypogonadism Short toe Heterotopia Joint hyperflexibility Hypertrichosis Hypoplasia of penis Narrow forehead Decreased testicular size Full cheeks Tapered finger Thick eyebrow Oral cleft Hypothermia Increased CSF protein Gait disturbance Osteopenia Abnormality of eye movement Nausea and vomiting Abnormality of the cerebral white matter Cough Abnormal pyramidal sign Hyperlordosis Facial palsy Weight loss Sleep disturbance Hyperhidrosis Dementia Agenesis of corpus callosum Hyporeflexia Vomiting Respiratory insufficiency Short neck Dysmetria Sudden cardiac death Atrophy/Degeneration affecting the brainstem Dysphonia Muscle fibrillation Dysphasia Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior Precocious puberty Encephalitis Leukoencephalopathy Gliosis Abnormal autonomic nervous system physiology Muscle stiffness Leukodystrophy Clonus Diplopia Cerebral calcification Peripheral demyelination Hypotension Subchorionic septal cyst


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