Intrauterine growth retardation, and Ambiguous genitalia

Diseases related with Intrauterine growth retardation and Ambiguous genitalia

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

Top matches:

Medium match SERKAL SYNDROME

SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

SERKAL SYNDROME Is also known as serkal syndrome|sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Related symptoms:

  • Growth delay
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SERKAL SYNDROME

Medium match IVEMARK SYNDROME

Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK SYNDROME

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Other less relevant matches:

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Medium match OSTEOCRANIOSTENOSIS

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type|autosomal recessive popliteal pterygium syndrome|bps|lethal popliteal pterygium syndrome|multiple pterygium syndrome, aslan type|bartsocas-papas syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BARTSOCAS-PAPAS SYNDROME

Medium match FILIPPI SYNDROME

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

Medium match DESMOSTEROLOSIS

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Ambiguous genitalia

Symptoms // Phenotype % cases
Growth delay Very Common - Between 80% and 100% cases
Cleft palate Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Seizures Global developmental delay Intellectual disability Short nose Clinodactyly Agenesis of corpus callosum Anteverted nares Microphthalmia Small for gestational age Severe short stature Failure to thrive Hydrocephalus Cryptorchidism Syndactyly Abnormal facial shape Ventricular septal defect Renal agenesis Oligohydramnios Cleft lip Flexion contracture Pulmonary hypoplasia Generalized hypotonia Depressed nasal bridge Prominent forehead Atrial septal defect Hypospadias Short neck Short philtrum Talipes equinovarus Abnormality of cardiovascular system morphology Ventriculomegaly Asplenia Cleft upper lip Talipes Toe syndactyly Abnormal cardiac septum morphology

Rare Symptoms - Less than 30% cases

Pulmonic stenosis Polymicrogyria Micromelia Small nail Micropenis Downslanted palpebral fissures Intestinal malrotation Omphalocele Abnormality of the genital system Brachydactyly 2-4 toe syndactyly Median cleft lip Narrow nasal bridge Hypotelorism Ambiguous genitalia, male Specific learning disability Spasticity Iris coloboma Renal hypoplasia/aplasia Cupped ear Splenomegaly Finger syndactyly Limb undergrowth Postnatal growth retardation Narrow mouth Clinodactyly of the 5th finger Arthrogryposis multiplex congenita Polydactyly Cerebral hypoplasia Short sternum Dandy-Walker malformation Renal cyst Wide nose High forehead Bowing of the long bones Brachycephaly Posteriorly rotated ears Cerebellar hypoplasia Finger clinodactyly Underdeveloped nasal alae Wide nasal bridge Epicanthus Frontal bossing Nystagmus Hypertonia Severe intrauterine growth retardation Patent ductus arteriosus Ambiguous genitalia, female Hypoplasia of the bladder Multicystic kidney dysplasia Immunodeficiency Pachygyria Anomalous pulmonary venous return Hypertrichosis Decreased fetal movement Asthma Anal atresia Total anomalous pulmonary venous return Oral cleft Congenital diaphragmatic hernia Strabismus Long eyelashes Muscular hypotonia of the trunk Sparse hair Intellectual disability, moderate Gingival fibromatosis Increased bone mineral density Abnormality of earlobe Broad forehead Thin upper lip vermilion Bilateral single transverse palmar creases Macrogyria Muscle stiffness Status epilepticus Microretrognathia Prominent nasal bridge Synophrys Neurological speech impairment Joint contracture of the hand Decreased body weight Fine hair Microdontia Generalized osteosclerosis Rhizomelia Limitation of joint mobility Hypodontia Postnatal microcephaly Single transverse palmar crease Hirsutism Thick eyebrow Proptosis Thin vermilion border Smooth philtrum Paraplegia Bulbous nose Delayed skeletal maturation Lissencephaly Aplasia/Hypoplasia of the distal phalanges of the toes Oral synechia Osteopetrosis Adactyly Unilateral renal hypoplasia Large earlobe Hypoplastic male external genitalia Synostosis of joints Popliteal pterygium Bilateral cleft palate Ankyloblepharon Sparse or absent eyelashes Alopecia totalis Labial hypoplasia Prominent superficial veins Eyelid coloboma Hypoplastic scapulae Sparse lower eyelashes Symblepharon Aplasia/Hypoplasia of the corpus callosum Intellectual disability, severe Relative macrocephaly Dystonia Dermal atrophy Cerebellar atrophy Metatarsus adductus Abnormality of neuronal migration Bilateral talipes equinovarus Abnormality of the skeletal system Muscular hypotonia Partial agenesis of the corpus callosum Aplasia/Hypoplasia of the skin Absent septum pellucidum Submucous cleft hard palate Optic atrophy Visual impairment Abnormality of the nose Abnormal cortical gyration Generalized hirsutism Rigidity Short chin Hepatic fibrosis Hydroureter Radial deviation of finger Preaxial polydactyly Polycystic kidney dysplasia Arnold-Chiari malformation Spontaneous abortion Spina bifida Renal dysplasia Occipital encephalocele Encephalocele Coarctation of aorta Sloping forehead Postaxial hand polydactyly Neural tube defect Skin tags Webbed neck External genital hypoplasia Natal tooth Elevated amniotic fluid alpha-fetoprotein Abnormality of the larynx Lobulated tongue Accessory spleen Cerebellar dysplasia Portal fibrosis Meningoencephalocele Cystic renal dysplasia Bile duct proliferation Abnormality of the uterus Urethral atresia Breech presentation Single umbilical artery Meningocele Adrenal hypoplasia Foot polydactyly Abnormality of the ureter Alveolar ridge overgrowth Anencephaly Urethral obstruction Olfactory lobe agenesis Bifid uvula Dysphasia Abnormality of cholesterol metabolism Narrow nose Limb hypertonia Limb dystonia Cutaneous finger syndactyly Abnormality of digit Aphasia Supernumerary nipple High anterior hairline Short middle phalanx of finger Mutism Retrognathia Widely spaced teeth Cutaneous syndactyly Elevated alpha-fetoprotein Telecanthus Low-set, posteriorly rotated ears Low hanging columella Echolalia Large placenta Macrocephaly Occipital meningocele Craniorachischisis Postaxial polydactyly Wide mouth Hydronephrosis Feeding difficulties Dilatation Hypoplasia of the corpus callosum Broad columella Frontal hirsutism Enlarged epiphyses Clinodactyly of the 5th toe Aplastic/hypoplastic toenail Narrow naris Anteverted ears Congenital microcephaly Cutaneous syndactyly of toes Hypoplastic labia majora Premature chromatid separation Absent eyelashes Depressed nasal ridge Precocious puberty Tented upper lip vermilion Anosmia EMG: myopathic abnormalities Hemangioma Holoprosencephaly Choanal atresia Hypoplasia of penis Hamartoma Tetralogy of Fallot Growth hormone deficiency Premature birth Ectodermal dysplasia Coloboma Hypothyroidism Intellectual disability, mild Scoliosis Anophthalmia Maternal diabetes Chronic lung disease Torus palatinus Skeletal dysplasia Osteopenia Pneumonia Motor delay Midnasal stenosis Pyriform aperture stenosis Prominent median palatal raphe Single naris Hypothalamic hamartoma Duodenal atresia Semilobar holoprosencephaly Cyclopia Abnormality of the nasopharynx Single median maxillary incisor Nasal obstruction Panhypopituitarism Hyposmia Abnormality of chromosome segregation Pulmonary artery hypoplasia Recurrent lower respiratory tract infections Craniosynostosis Abnormal heart morphology Pulmonary artery atresia Choanal stenosis Polysplenia Abnormal lung lobation Atrioventricular canal defect Dextrocardia Situs inversus totalis Congestive heart failure Abdominal situs inversus Adrenal gland agenesis Malrotation of small bowel Bilateral lung agenesis Ovotestis Abnormality of the penis Abnormality of the adrenal glands Sex reversal Pulmonary artery stenosis Complete atrioventricular canal defect Heterotaxy Scaphocephaly Polyhydramnios Cortical gyral simplification Clitoral hypertrophy Narrow face Recurrent urinary tract infections Abnormal lung morphology Convex nasal ridge Long face Protruding ear Respiratory failure Biliary atresia Recurrent respiratory infections Hernia Respiratory distress Right atrial isomerism Bilateral trilobed lungs Left atrial isomerism Single ventricle Common atrium Coarse facial features Recurrent fractures Anal stenosis Obesity Wide intermamillary distance Hypoplasia of the maxilla Confusion Corneal opacity Blepharophimosis Pes planus Alopecia Hypodysplasia of the corpus callosum Short palpebral fissure Embryonal rhabdomyosarcoma Triangular mouth Rhabdomyosarcoma Mild microcephaly Acute leukemia Multiple renal cysts Acute lymphoblastic leukemia Combined immunodeficiency Renal hypoplasia Sparse scalp hair Nephroblastoma Mask-like facies Aplasia cutis congenita Facial cleft Multiple cafe-au-lait spots Absent thumb Truncal obesity Aplasia/Hypoplasia of the eyebrow Anonychia Hypoplastic toenails Bilateral cryptorchidism Short phalanx of finger Absent eyebrow Ectropion Pterygium Sacral dimple Narrow palpebral fissure Opacification of the corneal stroma Short thumb Cafe-au-lait spot Bifid scrotum Limb-girdle muscular dystrophy Ascites Hypokinesia Lethal skeletal dysplasia Cloverleaf skull Decreased skull ossification Short hallux Radial bowing Aniridia Thin ribs Slender long bone Flared metaphysis Aplasia/hypoplasia of the extremities Hyperostosis Redundant skin Growth abnormality Disproportionate short-limb short stature Hypocalcemia Cardiac arrest Progressive microcephaly Abdominal distention Ankyloglossia Thin clavicles Myelodysplasia Muscular dystrophy Sarcoma Hyperpigmentation of the skin Primary amenorrhea Intellectual disability, profound Amenorrhea Generalized myoclonic seizures Generalized tonic-clonic seizures Severe global developmental delay Leukemia Overtubulated long bones Feeding difficulties in infancy Upslanted palpebral fissure Midface retrusion Malar flattening Long philtrum Cataract Neoplasm Hypoplastic spleen Hypoplastic nasal bridge


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