Intrauterine growth retardation, and Round face

Diseases related with Intrauterine growth retardation and Round face

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

Top matches:

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

High match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Other less relevant matches:

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A

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

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

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Short stature Generalized hypotonia Delayed speech and language development Downslanted palpebral fissures Wide nasal bridge Micrognathia Anteverted nares Failure to thrive Depressed nasal bridge Mild short stature Spasticity Diabetes mellitus Flat face Hyperactivity Accelerated skeletal maturation Low-set ears Abnormal facial shape Small hand High palate Narrow mouth Hearing impairment Pectus excavatum Talipes equinovarus

Rare Symptoms - Less than 30% cases

Macrotia Mandibular prognathia Hypospadias Autism Obesity Bilateral ptosis Midface retrusion Malar flattening Single transverse palmar crease Downturned corners of mouth Short philtrum Blepharophimosis Camptodactyly Gastroesophageal reflux High forehead Large fontanelles Abnormal heart morphology Fair hair Short palpebral fissure Clinodactyly Type I diabetes mellitus Hypothyroidism Cleft palate Clinodactyly of the 5th finger Short nose Abnormal corpus callosum morphology Red hair Blue irides Short metacarpal Spinal canal stenosis Congenital hypothyroidism Long philtrum Short metatarsal Increased intracranial pressure Short toe Short phalanx of finger Growth hormone deficiency Delayed skeletal maturation Cone-shaped epiphysis Brachydactyly Muscular hypotonia Severe global developmental delay Full cheeks Hepatic failure Agenesis of corpus callosum Abnormality of cardiovascular system morphology Intellectual disability, severe Postnatal growth retardation High pitched voice Hypoplasia of the corpus callosum Scoliosis Hydronephrosis Sensorineural hearing impairment Strabismus Ptosis Feeding difficulties Cerebellar hypoplasia Postaxial polydactyly Tetralogy of Fallot Talipes Toe syndactyly Cerebellar vermis hypoplasia Small forehead Low frustration tolerance Horseshoe kidney Congenital, generalized hypertrichosis Respiratory failure Cutaneous syndactyly Optic nerve hypoplasia Hypoplasia of the radius Athetosis Asymmetry of the thorax 2-3 toe syndactyly Absent septum pellucidum Underdeveloped supraorbital ridges Microtia Hirsutism Polydactyly Abnormality of the helix Pigmentary retinopathy Dilatation of renal calices Opacification of the corneal stroma Poor suck Hyperextensibility at elbow Cubitus valgus Clitoral hypertrophy Metatarsus adductus Palpebral edema Epiphyseal stippling Generalized neonatal hypotonia Posteriorly rotated ears Optic nerve dysplasia Macrogyria Renal cortical microcysts Brushfield spots Intrahepatic biliary dysgenesis Stippled chondral calcification Optic atrophy Pierre-Robin sequence Atrial septal defect Syndactyly Aplasia/Hypoplasia of the ribs Glossoptosis Short sternum Abnormal hair pattern Intellectual disability, moderate Narrow palpebral fissure Finger clinodactyly Anxiety Generalized hirsutism Rhizomelia Stereotypy Long eyelashes Broad-based gait Aggressive behavior Telecanthus Neurological speech impairment Sacral dimple Dolichocephaly Hypertrichosis Webbed neck Synophrys Facial asymmetry Thin vermilion border Tapered finger Highly arched eyebrow Thick eyebrow Wide nose Thin upper lip vermilion Infantile muscular hypotonia Cleft soft palate Behavioral abnormality Anteverted ears Psychomotor deterioration Broad philtrum Deep palmar crease Short attention span Persistent left superior vena cava Prominent antihelix Tongue nodules Cerebellar hemorrhage Dysphagia Intellectual disability, mild Brachycephaly Dilatation Constipation Prominent forehead Depressed nasal tip Abnormality of the elbow Narrow nose Narrow nasal bridge Short middle phalanx of finger Abnormality of the hand Delayed gross motor development Renal cyst Tremor Polymicrogyria Language impairment Microretrognathia Abnormality of the voice Abnormality of bone mineral density Cat cry Edema Abnormality of the pinna Wide mouth Broad forehead Abnormality of the cerebral white matter Joint hypermobility Vertebral fusion Recurrent fractures Delayed ability to walk Abnormal myelination Unilateral cryptorchidism Hypogonadism Specific learning disability Hypocalcemia Hyperphosphatemia Elevated circulating parathyroid hormone level Pseudohypoparathyroidism Hypoplastic vertebral bodies Preauricular skin tag Joint hyperflexibility Cerebral venous thrombosis Pneumonia Elevated hepatic transaminase Joint laxity Abnormality of the liver Hepatic steatosis Cholestasis Decreased liver function CNS hypomyelination Hyperextensible skin Cardiomyopathy Absent speech Severe short stature Finger syndactyly Craniosynostosis Short foot Prominent nose Sloping forehead Cortical gyral simplification Partial agenesis of the corpus callosum Restrictive cardiomyopathy Metaphyseal sclerosis Short neck Inguinal hernia Low-set, posteriorly rotated ears Elevated calcitonin Narrow vertebral interpedicular distance Feeding difficulties in infancy Down-sloping shoulders Fine hair Abnormal vertebral morphology Truncal ataxia Oligodontia Polydipsia Hypoplasia of the brainstem Hyperglycemia Polyuria Brisk reflexes Ketoacidosis Maternal diabetes Blue sclerae Prominent superficial veins Recurrent hypoglycemia Kinetic tremor Increased vertebral height Cataract Hepatomegaly Splenomegaly Areflexia Hepatosplenomegaly Jaundice Renal hypoplasia Hypotelorism Low urinary cyclic AMP response to PTH administration Eczema Hypoplasia of the nasal bone Absent/hypoplastic paranasal sinuses Congenital craniofacial dysostosis Hypertension Abnormality of the skeletal system Skeletal dysplasia Joint stiffness Hypoplasia of the maxilla Asthma Underdeveloped nasal alae Osteoarthritis Delayed myelination Rhinitis Cone-shaped epiphyses of the phalanges of the hand Chronic rhinitis Dysarthria Gait ataxia Kyphoscoliosis Hyperlordosis Sparse hair Small for gestational age Delayed puberty Dysmetria Elbow hypertrichosis


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