Intrauterine growth retardation, and Triangular face

Diseases related with Intrauterine growth retardation and Triangular face

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

Top matches:

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 5; MGORS5

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME Is also known as pancreatic and cerebellar agenesis|diabetes mellitus, permanent neonatal, with cerebellar agenesis

Related symptoms:

  • Seizures
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME

Other less relevant matches:

Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 3; MGORS3

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Triangular face

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Intellectual disability Downslanted palpebral fissures Scoliosis Talipes equinovarus Frontal bossing Depressed nasal bridge Micrognathia Feeding difficulties Epicanthus Prominent forehead Gastroesophageal reflux Long philtrum Delayed skeletal maturation Postnatal growth retardation Hypoplasia of the maxilla Slender long bone Hip dislocation Short stature Seizures Osteopenia Brachycephaly Anteverted nares Thin upper lip vermilion Broad forehead Cutis laxa Hypertelorism Premature skin wrinkling Generalized hypotonia Posteriorly rotated ears

Rare Symptoms - Less than 30% cases

Small for gestational age Pes planus Mandibular prognathia Hypospadias Protruding ear Malar flattening Abnormality of the skeletal system Small hand Oligohydramnios Prominent nasal bridge Severe intrauterine growth retardation Reduced subcutaneous adipose tissue Clitoral hypertrophy Pointed chin Joint hypermobility Short ribs Smooth philtrum Coxa vara Synophrys Short thorax Hypoplasia of the corpus callosum Delayed speech and language development Ptosis Strabismus Growth abnormality Abnormality of the pinna Bulbous nose Joint laxity Short chin Short neck Short philtrum Micropenis Birth length less than 3rd percentile Clinodactyly Motor delay Cryptorchidism Microtia Adducted thumb Flexion contracture Talipes Bilateral talipes equinovarus Patellar aplasia Abnormality of glutamine metabolism Severe postnatal growth retardation Thoracic hypoplasia Increased serum bile acid concentration Muscular hypotonia Tracheomalacia Genu varum Cataract Abnormality of the clitoris Laryngomalacia Macrocephaly Hernia Inguinal hernia Autism Autistic behavior Corneal opacity Scrotal hypoplasia Calvarial skull defect Sparse pubic hair Sparse axillary hair Situs inversus totalis Cirrhosis Thin vermilion border Abnormal bleeding Asthma Coarctation of aorta Pancytopenia Telangiectasia Hepatic fibrosis Wide anterior fontanel Decreased liver function Hydrops fetalis Deep philtrum Coxa valga Poor suck Patent foramen ovale Hypoplastic labia minora Dextrocardia Biventricular hypertrophy Bronchomalacia Micronodular cirrhosis Aplasia/Hypoplasia of the patella Breast hypoplasia Functional respiratory abnormality Infra-orbital crease Microretrognathia Intellectual disability, profound Recurrent pneumonia Severe global developmental delay Encephalopathy Global brain atrophy Failure to thrive in infancy Wide mouth Cachexia Tented upper lip vermilion Constipation High forehead Muscular hypotonia of the trunk Infantile muscular hypotonia Poor speech Cerebral atrophy Inability to walk Plagiocephaly Severe muscular hypotonia Dyskinesia Tapered finger Choreoathetosis Sleep disturbance Brain atrophy Prominent nose Esotropia Absent speech Hip contracture Congenital cataract Delayed cranial suture closure Thick lower lip vermilion Open mouth Thin skin Dyspnea Wormian bones Spontaneous abortion Aortic regurgitation Unilateral renal agenesis Narrow mouth Brisk reflexes Spinal canal stenosis Dystonia Calcaneovalgus deformity Dermal translucency Profound static encephalopathy Appendicular hypotonia Small foramen magnum Nystagmus Generalized tonic seizures Spasticity Profound global developmental delay Facial hypotonia Narrow chest Colpocephaly Abnormality of the kidney Pectus carinatum Small earlobe Toe clinodactyly Irregular femoral epiphysis Optic atrophy Obesity Cerebellar hypoplasia Diabetes mellitus Hypoglycemia Apnea Joint stiffness Convex nasal ridge Irregular epiphyses Type II diabetes mellitus Optic nerve hypoplasia Hyperglycemia Overlapping fingers Secundum atrial septal defect Ileus Neonatal insulin-dependent diabetes mellitus Meconium ileus Cerebellar agenesis Aplasia/Hypoplasia of the pancreas Hypoplasia of the capital femoral epiphysis Mild global developmental delay Clinodactyly of the 5th finger Pterygium Hypertension Myopathy Respiratory failure Polyhydramnios Kyphoscoliosis Camptodactyly Arthrogryposis multiplex congenita Pulmonary hypoplasia Decreased fetal movement Joint contracture of the hand Congenital contracture Prominent metopic ridge Ankylosis Cardiorespiratory arrest Preeclampsia Ulnar deviation of the hand Thoracic kyphoscoliosis Abnormality of the diaphragm Short umbilical cord Cleft palate Thick vermilion border Microdontia Elbow dislocation Pectus excavatum Severe short stature Hydronephrosis Malar rash Abnormal cardiac septum morphology High, narrow palate Broad nasal tip Narrow forehead Broad-based gait Decreased body weight Hemivertebrae Sacral dimple Deep palmar crease Macrodontia Nevus flammeus of the forehead Wide nasal bridge Decreased head circumference Anemia Hepatomegaly Ventricular septal defect Atrial septal defect Edema Splenomegaly Thrombocytopenia Patent ductus arteriosus Hepatosplenomegaly Telecanthus High palate Hyperlordosis Midface retrusion Dolichocephaly Thick eyebrow Decreased testicular size Scapular winging Spina bifida occulta Short 5th finger Hypoplastic pelvis Increased vertebral height Ventriculomegaly Hydrocephalus Agenesis of corpus callosum Abnormal glycosylation Osteoporosis Deeply set eye Recurrent fractures Hypotelorism Blue sclerae Bowing of the long bones Large fontanelles Congenital hip dislocation Redundant skin Prominent superficial veins Narrow nasal ridge Absent sternal ossification


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