Intrauterine growth retardation, and Thin upper lip vermilion

Diseases related with Intrauterine growth retardation and Thin upper lip vermilion

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

Top matches:

Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY Is also known as scid due to dna-pkcs deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Other less relevant matches:

Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

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

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

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

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

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

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Thin upper lip vermilion

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

Other less frequent symptoms

Patients with Intrauterine growth retardation and Thin upper lip vermilion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of the corpus callosum Brachycephaly Generalized hypotonia Microcephaly Feeding difficulties Ptosis Wide nasal bridge Long philtrum Hearing impairment Short stature Scoliosis Depressed nasal bridge Absent speech Anteverted nares Short philtrum Arachnodactyly Short chin Epicanthus Downslanted palpebral fissures Abnormality of the pinna Abnormal cardiac septum morphology Prominent forehead Atrial septal defect Flexion contracture High palate Triangular face Autism Hypertelorism Prominent nasal bridge Smooth philtrum Joint laxity Wide nose Broad nasal tip

Rare Symptoms - Less than 30% cases

Talipes Short neck Abnormal heart morphology Tapered finger Recurrent infections Long eyelashes Inability to walk High forehead Bulbous nose Frontal bossing Failure to thrive Slender finger Long nose Open mouth Posteriorly rotated ears Telecanthus Protruding ear Long face Small hand Craniosynostosis Osteopenia Broad thumb Sacral dimple Ventricular septal defect Abnormality of the skeletal system Broad forehead Sensorineural hearing impairment Autistic behavior Prominent nose Micrognathia Hypertension Talipes equinovarus Brain atrophy Wide mouth Sepsis Impaired social interactions Intellectual disability, mild Delayed speech and language development Respiratory failure Syringomyelia Spastic tetraplegia Macrotia Bicornuate uterus Retrognathia Rectovaginal fistula Macrocephaly Eyelid coloboma Highly arched eyebrow Tetraplegia Pulmonary artery stenosis Overlapping toe Long palpebral fissure Muscular hypotonia Brachydactyly Cleft palate Narrow nose Ventriculomegaly Flat occiput Cognitive impairment Intellectual disability, severe Toe syndactyly Motor delay Severe muscular hypotonia 4-5 toe syndactyly Pelvic kidney Lop ear Dyskinesia Duane anomaly Sleep disturbance Peripheral pulmonary artery stenosis Esotropia Intellectual disability, profound Labial hypoplasia Choreoathetosis Plagiocephaly Cryptorchidism Infantile muscular hypotonia Tented upper lip vermilion Cachexia Failure to thrive in infancy Global brain atrophy Hip contracture Facial hypotonia Profound global developmental delay Abnormality of the dentition Appendicular hypotonia Profound static encephalopathy Generalized tonic seizures Pectus excavatum Behavioral abnormality Macroorchidism Aortic aneurysm Spina bifida Renal agenesis Obsessive-compulsive behavior Poor speech Vesicoureteral reflux Single transverse palmar crease Retinal dystrophy Disproportionate tall stature Narrow nasal bridge Aortic root aneurysm Abnormality of the rib cage Nasal speech Ascending tubular aorta aneurysm Velopharyngeal insufficiency Low frustration tolerance Oppositional defiant disorder Cat cry Abnormally folded helix Myopia Renal insufficiency Anal atresia Syndactyly Clinodactyly of the 5th finger Hydronephrosis Abnormality of the voice Deep philtrum Anal stenosis Joint hyperflexibility Dilatation Small for gestational age Agenesis of corpus callosum Hyperactivity Aggressive behavior Macular dystrophy Camptodactyly of finger Attention deficit hyperactivity disorder Ectopic kidney Clitoral hypertrophy Neurological speech impairment Hypoplasia of the maxilla Schizophrenia Hypoplasia of the radius Bicuspid aortic valve Aortic regurgitation Psychosis Dental crowding Anorexia Spina bifida occulta Hallucinations Narrow face Aplasia/Hypoplasia of the corpus callosum Horseshoe kidney Abnormality of the genitourinary system Emotional lability Hepatitis Severe global developmental delay Ulnar deviation of the hand Arthrogryposis multiplex congenita Pulmonary hypoplasia Decreased fetal movement Joint contracture of the hand Adducted thumb Pterygium Congenital contracture Bilateral talipes equinovarus Ankylosis Cardiorespiratory arrest Preeclampsia Thoracic kyphoscoliosis Kyphoscoliosis Abnormality of the diaphragm Short umbilical cord Cerebellar hypoplasia Coarse facial features Thick eyebrow Short distal phalanx of finger Dandy-Walker malformation Small nail Thick lower lip vermilion Sparse scalp hair Low anterior hairline Sandal gap Camptodactyly Polyhydramnios Dystrophic toenail Visual impairment Pain Tremor Elevated serum creatine phosphokinase Upslanted palpebral fissure Abnormality of the nervous system Unsteady gait Falls Everted lower lip vermilion Intention tremor Frequent falls Cupped ear Mildly elevated creatine phosphokinase Immunodeficiency Myopathy Micropenis Deeply set eye Cerebellar vermis hypoplasia Pachygyria CNS hypomyelination Combined immunodeficiency Cortical gyral simplification Severe vision loss Severe combined immunodeficiency Recurrent lower respiratory tract infections Overlapping fingers Recurrent aphthous stomatitis Hypoplastic toenails Abnormal corpus callosum morphology Muscular hypotonia of the trunk Esophageal varix Choanal atresia Cholestasis Hepatic fibrosis Wide anterior fontanel Polycystic kidney dysplasia Portal hypertension Congenital glaucoma Congenital hypothyroidism Enlarged kidney Hiatus hernia Thoracolumbar scoliosis Buphthalmos Renal cyst Sagittal craniosynostosis Cystic renal dysplasia Pancreatic cysts Pancreatic hypoplasia Splenic cyst Nystagmus Strabismus Spasticity Dystonia Cerebral atrophy Encephalopathy Constipation Bilateral sensorineural hearing impairment Cirrhosis Thick nasal alae Macrodontia Clinodactyly Pes planus Postnatal growth retardation Synophrys High, narrow palate Narrow forehead Broad-based gait Decreased body weight Pointed chin Hemivertebrae Severe intrauterine growth retardation Deep palmar crease Malar rash Abnormality of the liver Nevus flammeus of the forehead Decreased head circumference Hepatomegaly Splenomegaly Hernia Pneumonia Diabetes mellitus Glaucoma Hypothyroidism Umbilical hernia Abnormality of the kidney Hyperlordosis Mitral atresia


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