Intrauterine growth retardation, and Short palpebral fissure

Diseases related with Intrauterine growth retardation and Short palpebral fissure

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).

Related symptoms:

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY-MICROMELIA SYNDROME; MIMIS

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Other less relevant matches:

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 TARP SYNDROME

TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.

TARP SYNDROME Is also known as pierre robin syndrome-congenital heart defect-talipes syndrome|pierre robin sequence-congenital heart defect-talipes syndrome|talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava|talipes equinovarus-atrial

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TARP SYNDROME

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

Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) (see these terms) and pulmonary hypoplasia without neurological abnormalities.

RESTRICTIVE DERMOPATHY Is also known as fetal hypokinesia sequence due to restrictive dermopathy|hyperkeratosis-contracture syndrome|lethal restrictive dermopathy|tight skin contracture syndrome, lethal|tight skin contracture syndrome

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RESTRICTIVE DERMOPATHY

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WIEDEMANN-STEINER SYNDROME

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Short palpebral fissure

Symptoms // Phenotype % cases
Growth delay Very Common - Between 80% and 100% cases
Low-set ears Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Long philtrum High palate Blepharophimosis Generalized hypotonia Global developmental delay Seizures Narrow mouth Cleft palate Cryptorchidism Downslanted palpebral fissures Anteverted nares Abnormal facial shape Failure to thrive Abnormality of cardiovascular system morphology Short neck Talipes equinovarus Ptosis Wide nasal bridge Short nose Depressed nasal bridge Highly arched eyebrow Telecanthus Clinodactyly Full cheeks Epicanthus Intellectual disability, mild Rocker bottom foot Small for gestational age Obesity Thin vermilion border Camptodactyly of finger Atrial septal defect Talipes Wide nose Posteriorly rotated ears Abnormality of the skeletal system Narrow palpebral fissure Arthrogryposis multiplex congenita Flexion contracture Long eyelashes Underdeveloped supraorbital ridges

Rare Symptoms - Less than 30% cases

Aplasia cutis congenita Delayed skeletal maturation Large fontanelles Brachycephaly Smooth philtrum Facial asymmetry Dolichocephaly Narrow nasal bridge Absent septum pellucidum Wide mouth Abnormality of the pinna Thin upper lip vermilion Scoliosis Pes planus Polyhydramnios Clinodactyly of the 5th finger Abnormal heart morphology Patent ductus arteriosus High, narrow palate Alopecia Sacral dimple Accelerated skeletal maturation Hydrocephalus Triangular face Interphalangeal joint contracture of finger Round face Synophrys Absent eyelashes Toe syndactyly Abnormal hair pattern Broad-based gait Polydactyly Cerebellar hypoplasia Pectus excavatum Short phalanx of finger Thick eyebrow Sparse or absent eyelashes Pterygium Thoracic hypoplasia Wide intermamillary distance Depressed nasal tip Absent eyebrow Postnatal growth retardation Short sternum Abnormal corpus callosum morphology Ectropion Aplasia/Hypoplasia of the eyebrow Aggressive behavior Syndactyly Pulmonary hypoplasia Broad philtrum Adrenal hypoplasia Delayed speech and language development Strabismus Congenital contracture Multiple joint contractures Thin ribs Absent thumb Abnormality of the hand Short umbilical cord Respiratory failure Frontal bossing Agenesis of corpus callosum Microphthalmia Small placenta Hypertrichosis Small nail Growth hormone deficiency Underdeveloped nasal alae Everted lower lip vermilion Short philtrum Brachydactyly Cystic hygroma Short metacarpal Sparse hair Broad nasal tip Webbed neck Premature birth Sparse scalp hair Hearing impairment Short metatarsal Severe global developmental delay Deeply set eye Decreased fetal movement Muscular hypotonia Malar flattening Feeding difficulties Bilateral ptosis Thin clavicles Delayed gross motor development Infantile muscular hypotonia Dysphagia Short middle phalanx of finger Temporomandibular joint ankylosis High forehead Aplasia/Hypoplasia of the clavicles Decreased calvarial ossification Premature rupture of membranes Constipation Narrow nose Aplasia/Hypoplasia involving the nose Abnormality of the elbow Congenital adrenal hypoplasia Short attention span Stiff skin Congenital pseudoarthrosis of the clavicle Large placenta Finger clinodactyly Hirsutism Gastroesophageal reflux Macrotia Anxiety Aplasia/Hypoplastia of the eccrine sweat glands Intellectual disability, moderate Premature delivery because of cervical insufficiency or membrane fragility Neurological speech impairment Structural foot deformity Hydropic placenta Flat face Increased anterioposterior diameter of thorax Tapered finger Generalized hirsutism Prominent superficial blood vessels Dilatation Overtubulated long bones Hyperactivity Abnormal cellular phenotype Epidermal hyperkeratosis Stereotypy Rhizomelia Fixed facial expression Gastrointestinal atresia Short toe Prominent forehead Behavioral abnormality Drooling Psychomotor deterioration Prominent proximal interphalangeal joints Proptosis Kyphosis Edema Respiratory insufficiency Macrocephaly Skeletal muscle atrophy Peripheral neuropathy Unilateral narrow palpebral fissure Dandy-Walker malformation Prominent interphalangeal joints Prominent eyelashes Curly eyelashes Clubbing of toes Thick nasal alae Excessive wrinkled skin Broad distal phalanx of finger Eclabion Camptodactyly Coarctation of aorta Broad columella Overlapping fingers Absent palmar crease Elbow ankylosis Ulnar deviation of the hand or of fingers of the hand Thyroid hypoplasia Fractures of the long bones Hydranencephaly Cavum septum pellucidum Ulnar deviation of the hand Excessive daytime somnolence Abnormality of pelvic girdle bone morphology Fetal akinesia sequence Abnormality of abdomen morphology Anencephaly Fatigable weakness Slender long bone Hypokinesia Generalized amyotrophy Akinesia Wide nasal base Enlarged joints Anteverted ears Absent speech Poor speech Hypotrichosis Autistic behavior Coarse facial features Autism Osteoporosis Severe short stature Hernia Intellectual disability, severe Specific learning disability Elbow hypertrichosis Dilatation of renal calices Hyperextensibility at elbow Aplasia/Hypoplasia of the ribs Small forehead Congenital, generalized hypertrichosis Low frustration tolerance Asymmetry of the thorax Short palm Eczema Abnormality of the testis Abnormality of the metacarpal bones Echolalia Abnormality of finger Epileptic spasms Protruding tongue Dysphasia Aphasia Cone-shaped epiphysis Overfolded helix Mutism Status epilepticus Widely patent fontanelles and sutures Widely spaced teeth Sandal gap Joint dislocation Absence seizures Low anterior hairline Abnormality of epiphysis morphology Thick lower lip vermilion Microcolon Skin tags Thoracic kyphoscoliosis Redundant skin Shallow orbits Anteriorly placed anus External genital hypoplasia Mild short stature Tricuspid regurgitation Patent foramen ovale Abnormality of vision Secundum atrial septal defect Plagiocephaly Mitral valve prolapse Small hand Abnormality of the eye Low-set, posteriorly rotated ears Joint laxity Neonatal hypotonia Ventricular extrasystoles Abnormality of nervous system morphology Respiratory distress Cutaneous syndactyly Pierre-Robin sequence Glossoptosis 2-3 toe syndactyly Athetosis Hypoplasia of the radius Optic nerve hypoplasia Horseshoe kidney Optic atrophy Cerebellar vermis hypoplasia Tetralogy of Fallot Single transverse palmar crease Postaxial polydactyly Hepatic failure Microtia Hydronephrosis Upslanted palpebral fissure Ventriculomegaly Deep palmar crease Hypoplastic fifth toenail Limb undergrowth Convex nasal ridge Micromelia Narrow chest Craniosynostosis Abnormality of the columella Abnormality of the nares Aplasia/Hypoplasia of the corpus callosum Proportionate short stature Long nose Short chin Open mouth Thick vermilion border Short distal phalanx of finger Midface retrusion Oligohydramnios Cortical gyral simplification Ventricular septal defect Delayed myelination Sensorineural hearing impairment Frontal hirsutism Infra-orbital crease Pseudohypoparathyroidism Delayed ability to walk Laryngomalacia Short foot Oligodactyly Astigmatism Retrognathia Aplasia of the ulna Forearm undergrowth Humeroradial synostosis Short tibia Absent radius Cleft soft palate Persistent left superior vena cava Generalized hyperkeratosis Osteopenia Sparse eyebrow Pyloric stenosis Dermal atrophy Sparse eyelashes Choanal atresia Abnormality of the skin Kyphoscoliosis Dextrocardia Hyperkeratosis Hypospadias Symblepharon Bilateral cleft palate Sparse lower eyelashes Oral synechia Adactyly Scaling skin Natal tooth Hypoplastic male external genitalia Entropion Short nail Narrow nasal ridge Dermal translucency Ascending tubular aorta aneurysm Skin erosion Ureteral duplication Small face Transposition of the great arteries Decreased skull ossification Trismus Abnormality of the vasculature Severe intrauterine growth retardation Ankylosis Parakeratosis Submucous cleft hard palate Unilateral renal hypoplasia Synostosis of joints Prominent antihelix Hypoplasia of the maxilla Short thumb Cafe-au-lait spot Abnormality of the genital system Omphalocele Renal hypoplasia Ambiguous genitalia Oral cleft Renal hypoplasia/aplasia Cleft upper lip Confusion Corneal opacity Finger syndactyly Cleft lip Cerebellar hemorrhage Tongue nodules Opacification of the corneal stroma Cupped ear Aplasia/Hypoplasia of the distal phalanges of the toes Hypoplastic labia majora Popliteal pterygium Ankyloblepharon Alopecia totalis Labial hypoplasia Prominent superficial veins Eyelid coloboma Hypoplastic scapulae Median cleft lip Bilateral cryptorchidism Anal stenosis Facial cleft Multiple cafe-au-lait spots Truncal obesity Anonychia Hypoplastic toenails Mask-like facies Intestinal hypoplasia


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