Intrauterine growth retardation, and Hypopigmentation of the skin

Diseases related with Intrauterine growth retardation and Hypopigmentation of the skin

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

Top matches:

Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4B is caused by mutation in the EDN3 gene (OMIM ). WS type 4 is genetically heterogeneous (see WS4A; {277580}).For a description of other clinical variants of Waardenburg syndrome, see WS1 (OMIM ), WS2 (OMIM ), and WS3 (OMIM ).

WAARDENBURG SYNDROME, TYPE 4B; WS4B Is also known as waardenburg syndrome, type ivb|waardenburg syndrome, type 4b, with hirschsprung disease

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Intrauterine growth retardation
  • Telecanthus


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 4B; WS4B

Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Low match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Other less relevant matches:

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Low match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Growth delay Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Anemia

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Micrognathia Abnormality of the dentition Failure to thrive Neoplasm Cataract Seizures Generalized hypotonia Abnormality of skin pigmentation Prominent nose Hypopigmented skin patches Postnatal growth retardation Cryptorchidism Dilatation Hypertonia Ataxia Clinodactyly of the 5th finger Hypoplasia of the corpus callosum Arterial stenosis Intellectual disability, mild Immunodeficiency Cerebellar hypoplasia Malabsorption Sparse scalp hair Recurrent respiratory infections Hyperhidrosis Spasticity Gastrointestinal hemorrhage Leukemia Dry skin Cirrhosis Chromosome breakage Specific learning disability Cerebral calcification Telangiectasia of the skin Pulmonary fibrosis Vomiting Delayed skeletal maturation Osteoporosis Premature graying of hair Upslanted palpebral fissure Ventriculomegaly Strabismus Bone marrow hypocellularity Hypertelorism Delayed myelination Abnormal facial shape Carcinoma Prominent nasal bridge Sparse hair

Rare Symptoms - Less than 30% cases

Aplastic anemia Ridged nail Testicular atrophy Urethral stenosis Flared metaphysis Nephrotic syndrome Blepharitis Oligohydramnios Gliosis Muscular hypotonia Small for gestational age Motor delay Cerebellar atrophy Oral leukoplakia Myelodysplasia Premature loss of teeth Hepatic failure Nail dystrophy Renal insufficiency Abnormality of the kidney Carious teeth Retinopathy Low-set ears Sloping forehead Recurrent fractures Abnormality of coagulation Hypodontia Pancytopenia Hyperpigmentation of the skin Abnormal intestine morphology Dermal atrophy Behavioral abnormality Epiphora Muscular hypotonia of the trunk Abnormality of the liver Cerebral atrophy Proportionate short stature Stroke Glomerulosclerosis Atrial septal defect Abnormality of the skeletal system Downslanted palpebral fissures Projectile vomiting Malnutrition Short distal phalanx of finger Cognitive impairment Coarctation of aorta Hyperreflexia Wide nasal bridge Pruritus Headache Attention deficit hyperactivity disorder Prolonged neonatal jaundice Abnormality of the metaphysis Hepatosplenomegaly Narrow chest Hernia Brachycephaly Jaundice Irritability Dilatation of the cerebral artery Severe global developmental delay Joint hyperflexibility Visual impairment Cerebral cortical atrophy Sepsis Full cheeks Hypospadias Chorea Fine hair Optic atrophy Joint laxity Reticular hyperpigmentation Alopecia Diabetes mellitus Myeloid leukemia High pitched voice Squamous cell carcinoma Reduced number of teeth Cafe-au-lait spot Telangiectasia Abnormality of the face Type II diabetes mellitus Lymphoma Skin rash Protruding ear Thrombocytopenia Severe short stature Hodgkin lymphoma Pneumonia Diarrhea Conductive hearing impairment Coarse facial features Clinodactyly Microphthalmia Anteverted nares Epicanthus Delayed speech and language development Blue irides Microtia Sensorineural hearing impairment Acute myeloid leukemia Macrotia Scoliosis Hepatomegaly Visual loss Hiatus hernia Tubular atrophy Butterfly vertebrae Esophagitis Abnormal anterior chamber morphology Mild microcephaly Aspiration pneumonia Biliary atresia Band keratopathy Adrenal hypoplasia Papillary thyroid carcinoma Hypoplasia of the iris Aqueductal stenosis Abnormality of immune system physiology Congenital hypothyroidism Slender finger Abnormality of neuronal migration Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Flat occiput Hypoplasia of the brainstem Vesicoureteral reflux Hypoalbuminemia Diffuse cerebral atrophy Hypopigmentation of the fundus Adducted thumb Peripheral arterial stenosis Round face Thyroid dysgenesis Laryngospasm Hypoplasia of the ear cartilage Encephalomalacia Albuminuria Congenital nephrotic syndrome Pulmonary artery stenosis Coronal craniosynostosis Intrahepatic cholestasis Abnormality of the intervertebral disk Cholestatic liver disease Fat malabsorption Thyroid carcinoma Axial dystonia Diffuse mesangial sclerosis Diaphragmatic eventration Narrow nasal ridge Hand clenching Periorbital edema Abnormal renal physiology Spastic ataxia Abnormal pupil morphology Peripheral pulmonary artery stenosis Chronic kidney disease Lissencephaly Hyperkinesis Abnormality of eye movement Brain atrophy Tetraplegia Ascites Sleep disturbance Nephropathy Hematuria Inability to walk Arachnodactyly Talipes Poor speech Abnormality of the foot Premature birth Camptodactyly of finger Rectourethral fistula Delayed puberty Wide mouth Abnormality of the eye Reduced number of intrahepatic bile ducts Camptodactyly Proteinuria EEG abnormality Anal atresia Gastroesophageal reflux Limitation of joint mobility Dandy-Walker malformation Brachydactyly Aspiration Pulmonic stenosis Triangular face Microcornea Flat face Severe muscular hypotonia Stage 5 chronic kidney disease Opacification of the corneal stroma Axenfeld anomaly Vitamin D deficiency Renal artery stenosis Multiple small medullary renal cysts Chronic hepatic failure Unicoronal synostosis Joint contracture of the hand Progressive microcephaly Postnatal microcephaly Heterotopia Pachygyria Small nail Hypsarrhythmia Spastic tetraplegia Intrahepatic biliary atresia Hypotelorism Narrow forehead Abnormality of the vasculature Hepatocellular carcinoma Congestive heart failure Prominent forehead Hypothyroidism Narrow pelvis bone Abnormality of female external genitalia Shortening of all distal phalanges of the fingers Ulnar bowing Long clavicles Aplasia/Hypoplasia of the earlobes Hypertriglyceridemia Pointed chin Abnormality of the cerebral vasculature Hemivertebrae Pseudoepiphyses Multicystic kidney dysplasia Short 1st metacarpal Hypoplastic scapulae Tracheal stenosis Finger clinodactyly Spina bifida occulta Renal hypoplasia Acidosis Hypercholesterolemia Deeply set eye Hypoplastic iliac wing Large sella turcica Forearm undergrowth Radial bowing Generalized microdontia Ventricular septal defect Frontal bossing Myopia Hypertension Exotropia Depressed nasal bridge Lymphedema Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Rootless teeth Alveolar process hypoplasia Overtubulated long bones Straight clavicles Pseudoepiphyses of the metacarpals Renal dysplasia Abnormal vertebral morphology Abnormal form of the vertebral bodies Ivory epiphyses High iliac wings Areflexia Proximal femoral epiphysiolysis Moyamoya phenomenon Cholestasis Thin clavicles Distal symphalangism Increased intraocular pressure Corneal dystrophy Exocrine pancreatic insufficiency Convex nasal ridge Acanthosis nigricans Narrow palpebral fissure Coxa vara Coxa valga Abnormality of epiphysis morphology Hypoplasia of dental enamel Hemiparesis Epidermal acanthosis Limb undergrowth Microdontia Pigmentary retinopathy Underdeveloped nasal alae Nasal speech Scarring Micromelia Short philtrum Hypermetropia Broad forehead Skeletal dysplasia Retrognathia High forehead Patent ductus arteriosus Obesity Posterior embryotoxon Laryngomalacia Precocious puberty Severe postnatal growth retardation Chorioretinal atrophy Renal hypoplasia/aplasia Severe intrauterine growth retardation Elevated hepatic transaminase Portal hypertension Multiple cafe-au-lait spots Heart murmur Disproportionate short stature Hypoplasia of the ulna Craniosynostosis Vertebral segmentation defect Slender long bone Long nose Cone-shaped epiphysis Keratoconus Abnormality of the ribs Tibial bowing Limited elbow extension Truncal obesity Renal tubular acidosis Aplasia/Hypoplasia of the eyebrow Tetralogy of Fallot Short middle phalanx of finger Abnormality of the ureter Abnormality of dental morphology Hip dysplasia Obsessive-compulsive behavior Pes cavus Neoplasm of the skin Taurodontia Abnormal eyebrow morphology Neoplasm of the pancreas Abnormal eyelash morphology Aseptic necrosis Aplasia/Hypoplasia of the skin Skin vesicle Macule Neurofibromas Hypermelanotic macule Tracheoesophageal fistula Abnormality of the fingernails White hair Lymphopenia Skin ulcer Hepatic fibrosis Abnormal blistering of the skin Nail dysplasia Hypoplasia of the maxilla Palmoplantar keratoderma Hyperkeratosis Splenomegaly Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Periodontitis Abnormality of the testis Spotty hypopigmentation Esophageal stenosis Developmental regression Hypoglycemia Umbilical hernia Dementia Inguinal hernia Pectus excavatum Intellectual disability, severe Fatigue Dysarthria Muscle weakness Absent lacrimal punctum Palmar hyperkeratosis Abnormality of female internal genitalia Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Nail pits Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Abnormality of neutrophils Squamous cell carcinoma of the skin Abnormality of the pharynx Cellular immunodeficiency Spotty hyperpigmentation Female infertility Nausea and vomiting Low anterior hairline Short nose Cardiomyopathy Ovarian carcinoma Duodenal stenosis Macrodontia Stomach cancer Thick upper lip vermilion Ovarian neoplasm Proximal placement of thumb Breast carcinoma Narrow palate Long eyelashes Syndactyly Dental malocclusion Hip dislocation Blepharophimosis Total colonic aganglionosis White eyebrow White eyelashes White forelock Heterochromia iridis Mixed hearing impairment Aganglionic megacolon Bilateral sensorineural hearing impairment Telecanthus Malar flattening Recurrent infections Decreased fertility in females Azoospermia Abnormality of chromosome stability IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Hypoplasia of the zygomatic bone Acute leukemia IgG deficiency IgA deficiency Hand polydactyly Sacral dimple Narrow face Polydactyly Sinusitis Bronchiectasis Hypertrichosis Cutaneous photosensitivity Otitis media Abnormality of the skin Decreased antibody level in blood Ichthyosis Infertility Dolichocephaly Finger syndactyly Erythema Feeding difficulties in infancy Neurodegeneration Absent speech Phenylpyruvic acidemia Leukopenia Sparse eyelashes Conjunctivitis Horseshoe kidney Truncal ataxia Decreased fetal movement Decreased testicular size Hyporeflexia Respiratory distress Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Increased level of hippuric acid in urine Pterygium Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Folate deficiency Mood changes Abnormal posturing Generalized hypopigmentation Fair hair Self-mutilation Poor coordination Iron deficiency anemia Anosmia Neonatal respiratory distress Hypoplastic left heart Split nail Midface retrusion Dystonia Edema Hydrocephalus Talipes equinovarus Feeding difficulties High palate Flexion contracture Ptosis Nystagmus Anal mucosal leukoplakia Pterygium of nails Generalized hypopigmentation of hair Increased antibody level in blood Fragile teeth Brittle scalp hair Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Pancreatic adenocarcinoma Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Generalized hyperpigmentation Restrictive ventilatory defect Scleroderma Spontaneous abortion Generalized-onset seizure Coarse hair Hypopigmentation of hair Tarsal synostosis Prominent occiput Opisthotonus Osteomyelitis Myopathic facies Cerebral hemorrhage Mask-like facies Metaphyseal widening Intracranial hemorrhage Hyperextensible skin Abnormal palate morphology Exostoses Shock Cutis laxa Spastic tetraparesis Joint dislocation Wormian bones Thickened skin Chronic diarrhea Bowing of the long bones Choreoathetosis Progressive neurologic deterioration Tetraparesis Intellectual disability, profound Abnormality of lipid metabolism Atypical scarring of skin Psychosis Tremor Eczema Asthma Nausea Abnormality of the cerebral white matter Aggressive behavior Anxiety Osteopenia Autism Hyperactivity Abnormal heart morphology Depressivity Abnormality of cardiovascular system morphology Therapeutic abortion Hypothermia Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Spontaneous hematomas Venous insufficiency Trichorrhexis nodosa Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Pili torti Woolly hair Butterfly vertebral arch


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