Intrauterine growth retardation, and Clinodactyly of the 5th finger

Diseases related with Intrauterine growth retardation and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.

Top matches:

MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

High match SECKEL SYNDROME

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Other less relevant matches:

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

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

HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME Is also known as star syndrome|syndactyly with renal and anogenital malformations

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS 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

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Clinodactyly of the 5th finger

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

Other less frequent symptoms

Patients with Intrauterine growth retardation and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Abnormality of cardiovascular system morphology Abnormality of the skeletal system Small for gestational age Delayed skeletal maturation Clinodactyly Hearing impairment Global developmental delay Abnormal facial shape Seizures Myopia Downslanted palpebral fissures Ventricular septal defect Wide nasal bridge Joint stiffness Failure to thrive Anteverted nares Convex nasal ridge Hypertelorism Brachydactyly Malar flattening Intellectual disability, mild Dolichocephaly

Rare Symptoms - Less than 30% cases

Short neck Sensorineural hearing impairment Low-set ears Small hand Severe short stature Abnormal cardiac septum morphology Hyperactivity Abnormal heart morphology Single transverse palmar crease Patent ductus arteriosus Anemia Respiratory distress Long philtrum Pes planus Mild short stature Abnormality of the pinna Joint laxity Spina bifida occulta Mandibular prognathia Depressed nasal bridge Thin upper lip vermilion Frontal bossing Hypospadias Triangular face Cone-shaped epiphysis Short nose Epicanthus Craniosynostosis Rocker bottom foot Severe intrauterine growth retardation Severe global developmental delay Severe postnatal growth retardation Camptodactyly of finger Ventriculomegaly Anal atresia Interphalangeal joint contracture of finger Low-set, posteriorly rotated ears Short metacarpal Cleft palate Hypoplasia of the radius Finger clinodactyly Upslanted palpebral fissure Increased intracranial pressure Short metatarsal Abnormality of the fingernails Congenital hypothyroidism Spinal canal stenosis Blue irides Bilateral single transverse palmar creases High myopia Congenital cataract Cone-shaped epiphyses of the phalanges of the hand Rhinitis Photophobia Hypoplasia of penis Accelerated skeletal maturation Webbed neck Hypoplastic toenails Polycystic ovaries Abnormality of the elbow Midface retrusion Delayed speech and language development Obesity Diabetes mellitus Pulverulent cataract Autism Nuclear cataract Ectopic anus Hypothyroidism Skeletal dysplasia Hypoplasia of the maxilla Hypertension Increased serum ferritin Iron deficiency anemia Asthma Round face Underdeveloped nasal alae Eczema Osteoarthritis Microcytic anemia Short phalanx of finger Non-midline cleft lip Type I diabetes mellitus Fair hair Vesicoureteral reflux Red hair Full cheeks Mitral atresia Generalized hypotonia Muscular hypotonia High palate Hydrocephalus Atrial septal defect Agenesis of corpus callosum Neonatal hypotonia Abnormality of the eye Wide mouth Facial asymmetry Smooth philtrum Mitral valve prolapse Pelvic kidney Short palpebral fissure Plagiocephaly Abnormality of vision Redundant skin Patent foramen ovale Tricuspid regurgitation Thoracic hypoplasia External genital hypoplasia Anteriorly placed anus Shallow orbits Ventricular extrasystoles Secundum atrial septal defect 4-5 toe syndactyly Lop ear Chronic rhinitis Horseshoe kidney Renal insufficiency Syndactyly Hydronephrosis Telecanthus Toe syndactyly Talipes Bulbous nose Wide nose Retinal dystrophy Broad nasal tip Renal agenesis Spina bifida Aortic regurgitation Duane anomaly Bicuspid aortic valve Clitoral hypertrophy Ectopic kidney Macular dystrophy Anal stenosis Syringomyelia Narrow nose Pulmonary artery stenosis Eyelid coloboma Rectovaginal fistula Bicornuate uterus Labial hypoplasia Peripheral pulmonary artery stenosis Macrotia Ventricular hypertrophy Visual impairment Attention deficit hyperactivity disorder Absent earlobe Ptosis Motor delay Behavioral abnormality Abnormality of metabolism/homeostasis Prominent forehead Osteoporosis Hypogonadism Osteopenia Hypoglycemia Postnatal growth retardation Delayed eruption of teeth Mild global developmental delay Bilateral sensorineural hearing impairment Low posterior hairline Decreased body weight Insulin resistance Cafe-au-lait spot Low anterior hairline Radial deviation of finger Congenital sensorineural hearing impairment Truncal obesity Abnormality of the mouth Short attention span Abnormality of earlobe Prematurely aged appearance Neonatal hyperbilirubinemia Sloping forehead Abnormality of the ribs Radioulnar synostosis Mesomelia Cortical gyral simplification Dislocated radial head Patellar aplasia Camptodactyly Feeding difficulties in infancy Abnormality of the foot Oral cleft Prominent nose Short chin Cachexia Abnormal joint morphology Abnormal lung lobation Scoliosis Cognitive impairment Glaucoma Joint hyperflexibility Hip dysplasia Sparse scalp hair Narrow face Abnormality of dental enamel Sandal gap Reduced number of teeth Concave nasal ridge Prelingual sensorineural hearing impairment Cataract Double outlet right ventricle Hemiparesis Sinusitis Increased body weight Easy fatigability Clubbing Heart murmur Preauricular pit Polycythemia Underdeveloped supraorbital ridges Poor appetite Hyperventilation Truncus arteriosus Cyanosis 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 Absence of the pulmonary valve Strabismus Tetralogy of Fallot Thin vermilion border Small placenta Short thorax Congenital bilateral ptosis Pectus excavatum Hyperlordosis Hip dislocation Joint hypermobility Thick eyebrow Decreased testicular size Short ribs Pointed chin Coxa vara Scapular winging Slender long bone Pulmonic stenosis Short 5th finger Hypoplastic pelvis Increased vertebral height Muscle weakness Congestive heart failure Arrhythmia Recurrent respiratory infections Proptosis Dyspnea Respiratory tract infection Paralysis Broad forehead Abnormality of nervous system morphology


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