Intrauterine growth retardation, and Hypothyroidism

Diseases related with Intrauterine growth retardation and Hypothyroidism

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

Top matches:

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Other less relevant matches:

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 Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

STÜVE-WIEDEMANN SYNDROME Is also known as neonatal schwartz-jampel syndrome|stÜve-wiedemann dysplasia|sjs2|schwartz-jampel syndrome type 2

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about STÜVE-WIEDEMANN SYNDROME

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018).For an overview of congenital disorders of glycosylation (CDG), see CDG1A (OMIM ) and CDG2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION; CDGF

Medium match ALG8-CDG

ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Hypothyroidism

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Hypothyroidism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Diabetes mellitus Failure to thrive Microcephaly Congenital hypothyroidism Hepatitis Pancreatic hypoplasia Abnormal intestine morphology Cryptorchidism Feeding difficulties Glaucoma Recurrent infections Anemia Diarrhea Osteopenia Short stature Atrial septal defect Seizures

Rare Symptoms - Less than 30% cases

Umbilical hernia Patent ductus arteriosus Sepsis Respiratory distress Cardiac arrest Hyperglycemia Talipes equinovarus Flexion contracture High palate Hypertension Delayed speech and language development Abnormality of the dentition Ventricular septal defect Malar flattening Cholestasis Craniosynostosis Broad forehead Gliosis Hepatomegaly Generalized hypotonia Oligohydramnios Scoliosis Long philtrum Hernia Depressed nasal bridge Brachydactyly Buphthalmos Congenital glaucoma Thrombocytopenia Abnormal cardiac septum morphology Immunodeficiency Autoimmune hemolytic anemia Eczema Respiratory failure Postnatal growth retardation Lymphadenopathy Erythroderma Severe global developmental delay Hemolytic anemia Inflammatory abnormality of the skin Neutropenia Protein-losing enteropathy Obesity Left-to-right shunt Cirrhosis Thin upper lip vermilion Abnormality of the kidney Hyperlordosis Abnormality of the liver Neonatal insulin-dependent diabetes mellitus Choanal atresia Renal cyst Bilateral sensorineural hearing impairment Microcolon Hepatic fibrosis Wide anterior fontanel Polycystic kidney dysplasia Portal hypertension Intermittent diarrhea Enlarged kidney Hiatus hernia Thoracolumbar scoliosis Esophageal varix Cervical ribs Sagittal craniosynostosis Pneumonia Splenomegaly Aplasia/Hypoplasia of the gallbladder Decreased corneal reflex Sacral dimple Abnormality of vision Colon perforation Metaphyseal widening Impaired pain sensation Episodic fever Trismus Abnormal cortical bone morphology Lacrimation abnormality Thickened cortex of long bones Ectopic thyroid Flexion contracture of finger Anterior pituitary agenesis Smooth tongue Absent patellar reflexes Hearing impairment Congenital defect of the pericardium Hypoplastic tricuspid valve Double outlet left ventricle Sensorineural hearing impairment Low-set ears Epicanthus Pancreatic aplasia Hypoplasia of right ventricle Pancreatic cysts Cystic renal dysplasia Congenital diaphragmatic hernia Splenic cyst Abnormal isoelectric focusing of serum transferrin Pulmonary artery stenosis Ascites Decreased fetal movement Large fontanelles Lymphedema Exocrine pancreatic insufficiency Decreased liver function Tachypnea Hypoalbuminemia Abnormality of the renal tubule Primary hypothyroidism Cerebral atrophy Hepatic failure Abnormal heart morphology Transposition of the great arteries Inguinal hernia Neonatal hypotonia Elevated hepatic transaminase Small for gestational age Glycosuria Pulmonic stenosis Intestinal malrotation Patent foramen ovale Hyperbilirubinemia Pulmonary hypoplasia Truncus arteriosus Biliary atresia Limb undergrowth Perimembranous ventricular septal defect Interrupted aortic arch Tetralogy of Fallot Wide nasal bridge Short nose Polyhydramnios Kyphoscoliosis Retrognathia Hypoglycemia Hip dislocation Hirsutism Narrow forehead Single umbilical artery Nephrocalcinosis Ureteral duplication Prolonged partial thromboplastin time Congenital neutropenia Hypertelorism Cataract Mild microcephaly Short neck Vomiting Dyspnea Camptodactyly Abnormal autonomic nervous system physiology Knee flexion contracture Low urinary cyclic AMP response to PTH administration Elbow flexion contracture Intractable diarrhea Nephrotic syndrome Type I diabetes mellitus Eosinophilia Nephritis Abnormality of the coagulation cascade Malnutrition Abnormality of the thyroid gland Thyroiditis Ketoacidosis Villous atrophy Immune dysregulation Ileus Secretory diarrhea Arthritis Micrognathia Strabismus Ptosis Cognitive impairment Downslanted palpebral fissures Tremor Ventriculomegaly Behavioral abnormality Dystonia Absent speech Posteriorly rotated ears Anxiety Joint laxity Autoimmunity Erythroid dysplasia Abnormality of the cerebral white matter Madelung deformity Intellectual disability, severe Clinodactyly Delayed skeletal maturation Severe short stature Microtia Prominent nose Hip dysplasia Amenorrhea Hypotelorism Primary amenorrhea Hypoplasia of the uterus Central hypothyroidism Abnormality of the carpal bones Folliculitis Lumbar scoliosis Blindness Respiratory tract infection Dry skin Ichthyosis Abnormal lung morphology Bronchiectasis Lymphopenia Recurrent skin infections Myelodysplasia Atopic dermatitis Severe intrauterine growth retardation Osteosarcoma Abnormality of the pinna Facial asymmetry Hypohidrosis Osteoporosis Hyperphosphatemia Elevated circulating parathyroid hormone level Pseudohypoparathyroidism Red hair Hypoplastic vertebral bodies Elevated calcitonin Cerebral venous thrombosis Narrow vertebral interpedicular distance Hypoplasia of the nasal bone Absent/hypoplastic paranasal sinuses Congenital craniofacial dysostosis Muscular hypotonia Hyperhidrosis Blue irides Skeletal dysplasia Apnea Abnormality of the eye Feeding difficulties in infancy Camptodactyly of finger Genu valgum Micromelia Paresthesia Recurrent fractures Asthma Limitation of joint mobility Abnormality of the metaphysis Bowing of the long bones Fair hair Spinal canal stenosis Delayed myelination Hypogonadism Waddling gait Thick lower lip vermilion Pointed chin Sparse eyebrow Long fingers Esophageal atresia Periorbital fullness Lacrimal duct stenosis Mild intrauterine growth retardation Anteverted nares Midface retrusion Hypospadias Hyperactivity Mild short stature Autism Mandibular prognathia Round face Short metacarpal Growth hormone deficiency Specific learning disability Short phalanx of finger Short toe Hypocalcemia Accelerated skeletal maturation Increased intracranial pressure Short metatarsal Cone-shaped epiphysis Total absence of the pericardium


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