Growth delay, and Small for gestational age

Diseases related with Growth delay and Small for gestational age

In the following list you will find some of the most common rare diseases related to Growth delay and Small for gestational age that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Genetic Heterogeneity of Transient Neonatal DiabetesTNDM2 (OMIM ) is caused by mutation in the ABCC8 gene (OMIM ) on chromosome 11p15.1. TNDM3 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), also located on 11p15.1.

DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1|dmtn|tndm

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Intrauterine growth retardation
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1

Other less relevant matches:

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY Is also known as cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal intrahepatic cholestasis caused by citrin deficiency|citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia|niccd

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY

The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about THREE M SYNDROME 3; 3M3

Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B

SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.

APPARENT MINERALOCORTICOID EXCESS Is also known as ame1|11-beta-hydroxysteroid dehydrogenase deficiency type 2|ulick syndrome|cortisol 11-beta-ketoreductase deficiency

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Hypertension
  • Renal insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about APPARENT MINERALOCORTICOID EXCESS

Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Top 5 symptoms//phenotypes associated to Growth delay and Small for gestational age

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Small for gestational age. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Rare Symptoms - Less than 30% cases

Depressed nasal bridge Polyuria Hyperaldosteronism Metabolic alkalosis Hepatomegaly Dehydration Anemia Hypokalemia Abnormality of the liver Cirrhosis Hepatitis Frontal bossing Broad nasal tip Alkalosis Prominent forehead Abnormal facial shape Intellectual disability, mild Renal insufficiency Generalized hypotonia Microcephaly Delayed myelination Motor delay Abnormality of the skeletal system Abnormality of the skull base Metopic synostosis Absent/hypoplastic paranasal sinuses Abnormality of the thyroid gland Premature posterior fontanelle closure Wide anterior fontanel Abnormality of the kidney Muscular hypotonia Edema High forehead Posteriorly rotated ears Macrocephaly Epicanthus inversus Hypokalemic hypochloremic metabolic alkalosis Ptosis Hyporeflexia Hyponatremia Premature birth Renal salt wasting Polyhydramnios Aplasia/Hypoplasia of the frontal sinuses Decreased glomerular filtration rate Abnormality of metabolism/homeostasis Hypercalciuria Hypokalemic metabolic alkalosis Hypernatriuria Increased urinary potassium Hypochloremia Fetal polyuria Hyperchloriduria Prominent palatine ridges Adrenal hyperplasia Hypertension Brain atrophy Cerebellar atrophy Cerebral atrophy Prominent nasal bridge Severe global developmental delay Arthrogryposis multiplex congenita Abnormal cerebellum morphology Gliosis Neuronal loss in central nervous system Flexion contracture Sloping forehead Choanal atresia Cortical gyral simplification Profound global developmental delay Small cerebral cortex Abnormality of the cerebrum Abnormality of the cerebral cortex Ventriculomegaly Spasticity Retinopathy Subarachnoid hemorrhage Stroke Stage 5 chronic kidney disease Ventricular hypertrophy Hemiparesis Abnormality of the genital system Left ventricular hypertrophy Polydipsia Decreased serum iron Cataract Decreased circulating aldosterone level Decreased circulating renin level Congenital adrenal hyperplasia Hypokalemic alkalosis Hyposthenuria Hypernatremia Hypertensive retinopathy Micrognathia Sensorineural hearing impairment Chronic diarrhea Uncombable hair Abnormality of the nervous system Severe intrauterine growth retardation Severe failure to thrive Premature atrial contractions Transient neonatal diabetes mellitus Hypoinsulinemia Jaundice Hypoglycemia Hemolytic anemia Hyperglycemia Hepatic steatosis Hypertriglyceridemia Cholestasis Decreased liver function Hepatic fibrosis Hyperbilirubinemia Hypercholesterolemia Glucose intolerance Type II diabetes mellitus Abnormality of lipid metabolism Kyphoscoliosis Delayed skeletal maturation Delayed puberty Pachygyria Decreased body weight Mild microcephaly Scoliosis Delayed speech and language development Coarse facial features Overgrowth Intellectual disability, moderate Thick lower lip vermilion Dental crowding Long foot Talipes equinovarus Diabetes mellitus Macroglossia Prolonged neonatal jaundice Intrahepatic cholestasis Pili canaliculi Colitis Wide nasal bridge Diarrhea Immunodeficiency Sparse hair Wide nose Seizures Brittle hair Microcytic anemia Slender long bone Woolly hair Villous atrophy Trichorrhexis nodosa Hypochromic microcytic anemia Bloody diarrhea Chronic hepatitis Intractable diarrhea Increased vertebral height Short thorax Hypoproteinemia Long philtrum Decreased HDL cholesterol concentration Hypergalactosemia Giant cell hepatitis Hypermethioninemia Elevated plasma citrulline Anteverted nares Short neck Malar flattening Pointed chin Midface retrusion Clinodactyly Hyperlordosis Protruding ear Dolichocephaly Triangular face Hip dysplasia Abnormal neuron morphology


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