Intrauterine growth retardation, and Dolichocephaly

Diseases related with Intrauterine growth retardation and Dolichocephaly

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

Top matches:

Related symptoms:

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 2; MGORS2

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:

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

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

High match 3M SYNDROME

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

High 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

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Clinodactyly of the 5th finger Cryptorchidism Respiratory distress Long philtrum Malar flattening Pectus excavatum Delayed skeletal maturation Ventricular septal defect Pes planus Scaphocephaly Narrow face Hypoplastic pelvis Abnormality of cardiovascular system morphology Spina bifida occulta High palate Abnormal facial shape Triangular face Low-set ears Pointed chin Recurrent respiratory infections Protruding ear Downslanted palpebral fissures Severe short stature Frontal bossing Anteverted nares Abnormality of the skeletal system Small for gestational age Hypospadias Cleft palate Postnatal growth retardation Global developmental delay Joint hypermobility Short nose Slender long bone Hydrocephalus Intellectual disability

Rare Symptoms - Less than 30% cases

Short neck Hyperlordosis Facial asymmetry Hearing impairment Hypertelorism Thick eyebrow Hip dislocation Muscular hypotonia Epicanthus Camptodactyly of finger Scoliosis Mandibular prognathia Intellectual disability, mild Decreased testicular size Mild short stature Joint laxity Rocker bottom foot Generalized hypotonia Short ribs Clinodactyly Increased body weight Dilatation Chronic lung disease Sinusitis Broad forehead Proptosis Abnormal heart morphology Patent ductus arteriosus Finger syndactyly Neonatal respiratory distress Brachydactyly Anemia Arthrogryposis multiplex congenita Short 5th finger Short thorax Mitral valve prolapse Aortic aneurysm Scapular winging Depressed nasal bridge Increased vertebral height Seizures Abnormal cardiac septum morphology Myopia High pitched voice Clitoral hypertrophy Smooth philtrum Scrotal hypoplasia Abnormality of the pinna Ventriculomegaly Atrial septal defect Immunodeficiency Gastroesophageal reflux Retrognathia Long face Feeding difficulties Talipes equinovarus Hypertrichosis Abnormality of the nose Abnormality of the cerebral vasculature Enlarged thorax Secundum atrial septal defect Hypoplastic ischia Horizontal ribs Hypoplastic pubic bone IgM deficiency Strabismus Ptosis Cognitive impairment Skeletal muscle atrophy Thin ribs Gait disturbance Inguinal hernia Chronic obstructive pulmonary disease Hypogonadism Umbilical hernia Conductive hearing impairment Telecanthus Chromosome breakage Hypoplasia of the zygomatic bone Abnormality of the foot Abnormality of movement Acute leukemia Abnormality of the elbow Hypoplasia of the ulna Disproportionate short stature Thick lower lip vermilion Confusion Bulbous nose Joint hyperflexibility Skeletal dysplasia Midface retrusion Kyphosis Neoplasm of the gastrointestinal tract Thick vermilion border Everted lower lip vermilion Delayed eruption of teeth Agenesis of maxillary lateral incisor Abnormality of the metaphysis Decreased fertility Congenital hip dislocation Abnormality of dental enamel Spotty hyperpigmentation Joint dislocation Spotty hypopigmentation Abnormality of nervous system morphology IgG deficiency Short long bone Female infertility Decreased fertility in females Abnormality of chromosome stability Micromelia Leukemia Webbed neck Oral cleft Cafe-au-lait spot Myeloid leukemia Hyperhidrosis Telangiectasia of the skin Pulmonary fibrosis Squamous cell carcinoma Diabetes mellitus Hand polydactyly Reduced number of teeth Polydactyly Shallow orbits Hypopigmented skin patches Sacral dimple Azoospermia Erythema Recurrent infections Telangiectasia Bronchiectasis Abnormality of the face Cutaneous photosensitivity Type II diabetes mellitus Specific learning disability Otitis media Abnormality of the skin Prominent nose Decreased antibody level in blood Lymphoma Ichthyosis Infertility Pneumonia Syndactyly Pulmonary hypoplasia Aplasia/Hypoplasia of the abdominal wall musculature Hodgkin lymphoma Nevus Limitation of joint mobility Skin rash Hypoplasia of penis Low posterior hairline Pterygium Vertebral segmentation defect Abnormality of the sternum Aplasia/Hypoplasia of the skin Hearing abnormality Abnormal eyelid morphology Symphalangism affecting the phalanges of the hand Rib fusion Acute myeloid leukemia Abnormal aortic valve morphology Abnormality of the tongue Multiple pterygia Popliteal pterygium Antecubital pterygium Axillary pterygium Abnormality of skeletal morphology IgA deficiency Morphological abnormality of the gastrointestinal tract Absence of labia majora Neoplasm Cardiomyopathy Diarrhea Abnormality of the dentition Ventricular extrasystoles Cutis laxa Anteriorly placed anus Muscle weakness Convex nasal ridge Ambiguous genitalia Decreased fetal movement Congenital diaphragmatic hernia Abnormal lung morphology Pachygyria Recurrent urinary tract infections Multicystic kidney dysplasia Cortical gyral simplification Recurrent lower respiratory tract infections Pulmonary artery hypoplasia Coxa vara Congestive heart failure Polyhydramnios Arrhythmia Dyspnea Respiratory tract infection Paralysis Pulmonic stenosis Thin vermilion border Cyanosis Tetralogy of Fallot Ventricular hypertrophy Hemiparesis Easy fatigability Clubbing Heart murmur Asthma Respiratory failure Polycythemia Birth length less than 3rd percentile Narrow mouth Camptodactyly Microtia Underdeveloped nasal alae Emphysema Tracheomalacia Hypoplastic labia majora Labial hypoplasia Patellar aplasia Breast hypoplasia Aplasia/Hypoplasia of the patella Bronchomalacia Cataract Hernia Motor delay Micropenis Gait ataxia Autism Astigmatism Hypotelorism Rhizomelia Coxa valga Accelerated skeletal maturation Metaphyseal widening 2-3 toe syndactyly Obstructive sleep apnea Broad femoral neck Preauricular pit Underdeveloped supraorbital ridges External genital hypoplasia Thin upper lip vermilion Narrow nose Progeroid facial appearance Entropion Hyperextensibility of the finger joints Pes valgus Dural ectasia Narrow palm Prominent scalp veins Sensorineural hearing impairment Wide nasal bridge Agenesis of corpus callosum Upslanted palpebral fissure Neonatal hypotonia Aortic root aneurysm Low-set, posteriorly rotated ears Abnormality of the eye Wide mouth Small hand Full cheeks Interphalangeal joint contracture of finger Short palpebral fissure Plagiocephaly Abnormality of vision Redundant skin Patent foramen ovale Tricuspid regurgitation Thoracic hypoplasia Severe intrauterine growth retardation Reduced subcutaneous adipose tissue Poor appetite Absence of the pulmonary valve Hyperventilation Double outlet right ventricle Truncus arteriosus Right ventricular hypertrophy Pulmonary artery atresia Breathing dysregulation Interrupted aortic arch Right ventricular failure Abnormal nasal morphology Endocarditis Overriding aorta Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Hypertension Ectopia lentis Macrocephaly Prominent forehead Craniosynostosis Prominent nasal bridge Arachnodactyly Bruising susceptibility High, narrow palate Premature birth Oligohydramnios High myopia Tall stature Relative macrocephaly Lipodystrophy Facial telangiectasia in butterfly midface distribution


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