Intrauterine growth retardation, and Short philtrum

Diseases related with Intrauterine growth retardation and Short philtrum

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Short philtrum 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

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

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

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

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

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

Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.

ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE Is also known as rodriguez lethal acrofacial dysostosis syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE

High match MICRO SYNDROME

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO 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

Cerebrooculofacioskeletal syndrome-4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013).For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see {214150}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature 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 Short philtrum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Seizures Abnormal facial shape Anteverted nares Ptosis Generalized hypotonia Feeding difficulties Posteriorly rotated ears Hypoplasia of the corpus callosum Prominent nasal bridge Wide mouth Microphthalmia Depressed nasal bridge Frontal bossing Thin upper lip vermilion Cerebellar hypoplasia Brachycephaly Flexion contracture Atrial septal defect Short nose Intellectual disability, mild Scoliosis Wide nasal bridge Narrow mouth Open mouth Deeply set eye

Rare Symptoms - Less than 30% cases

Agenesis of corpus callosum Blepharophimosis Edema Nystagmus Talipes equinovarus Absent speech Abnormal heart morphology Spasticity Downslanted palpebral fissures Arachnodactyly Epicanthus High forehead Polymicrogyria Prominent forehead Broad forehead Cryptorchidism Strabismus Low anterior hairline Muscular hypotonia of the trunk Hypertelorism Slender finger Low-set, posteriorly rotated ears Joint laxity Muscular hypotonia Short chin Long eyelashes Long nose Cleft palate Hydronephrosis Deep philtrum Small nail Macrocephaly Abnormality of the skeletal system Aplasia/Hypoplasia of the corpus callosum Ventricular septal defect Triangular face Failure to thrive in infancy Failure to thrive Camptodactyly Short distal phalanx of finger High palate 11 pairs of ribs Clinodactyly Wide anterior fontanel Prominent nose Camptodactyly of finger Spastic diplegia Scrotal hypoplasia Lissencephaly Microcornea Postnatal microcephaly Generalized hirsutism Cerebral visual impairment Abnormality of retinal pigmentation Abnormal cerebellum morphology Pachygyria Cerebellar vermis hypoplasia Hirsutism Spastic tetraplegia Hypoplasia of penis Decreased testicular size Tetraplegia Delayed puberty Hypogonadism Congenital cataract Arrhinencephaly Triphalangeal thumb Overlapping toe Supernumerary nipple Short humerus Oligodactyly Aplasia/Hypoplasia of the radius Fibular hypoplasia Sprengel anomaly Short tibia Abnormality of the uterus Aqueductal stenosis Hand oligodactyly Phocomelia Aplasia/Hypoplasia of the ulna Joint stiffness Deep-set nails Absent forearm Cataract Visual impairment Peripheral neuropathy Optic atrophy Intellectual disability, severe Cerebellar atrophy Kyphosis Cortical dysplasia Glaucoma Cerebral cortical atrophy Micropenis Macrotia Decreased muscle mass Psychosis Cerebellar vermis atrophy Cat cry Kyphoscoliosis Respiratory failure Pneumonia Hypertonia Hyperreflexia Abnormally folded helix Oppositional defiant disorder Abnormality of the nervous system Low frustration tolerance Velopharyngeal insufficiency Ascending tubular aorta aneurysm Impaired social interactions Abnormality of the rib cage Macroorchidism EEG abnormality Retinopathy Narrow nasal bridge Brisk reflexes Flexion contracture of toe Wrist flexion contracture Bilateral microphthalmos Dislocated radial head Slender long bone Cortical gyral simplification Flared metaphysis Hip dislocation Rocker bottom foot Adducted thumb Knee flexion contracture Congenital hip dislocation Joint contracture of the hand Abnormality of the genital system Arthrogryposis multiplex congenita Aortic root aneurysm Disproportionate tall stature Abnormality of visual evoked potentials Brachydactyly Autism Hyperactivity Pectus excavatum Dilatation Behavioral abnormality Abnormality of the dentition Cognitive impairment Protruding ear Frontoparietal polymicrogyria Hypoplastic labia minora Clitoral hypoplasia Upper limb spasticity Abnormal localization of kidney Retinal coloboma Severe postnatal growth retardation Aggressive behavior Attention deficit hyperactivity disorder Emotional lability Narrow face Obsessive-compulsive behavior Aortic aneurysm Abnormality of the voice Nasal speech Schizophrenia Abnormality of the genitourinary system Hallucinations Neurological speech impairment Anorexia Dental crowding Broad thumb Abnormality of pelvic girdle bone morphology Hypoplasia of the maxilla Long face Joint hyperflexibility Radioulnar synostosis Smooth philtrum Renal hypoplasia/aplasia Abnormality of the cerebral white matter Wide nose Dandy-Walker malformation Thick lower lip vermilion Sparse scalp hair Sandal gap Hypoplastic toenails Dystrophic toenail Abnormal corpus callosum morphology Thick nasal alae Delayed speech and language development Long philtrum Gastroesophageal reflux Abnormality of the pinna Joint hypermobility Coarse facial features Flat face Downturned corners of mouth Round face Bilateral ptosis Language impairment Vertebral fusion Delayed ability to walk Abnormal myelination Unilateral cryptorchidism Anemia Hepatomegaly Splenomegaly Thrombocytopenia Patent ductus arteriosus Thick eyebrow Recurrent infections Abnormality of the kidney Hydrocephalus Midface retrusion Thick vermilion border Everted lower lip vermilion Highly arched eyebrow Full cheeks Underdeveloped nasal alae Growth hormone deficiency Short palpebral fissure Hypertrichosis Underdeveloped supraorbital ridges Proportionate short stature Abnormality of the nares Hypoplastic fifth toenail Abnormality of the columella Hyperkeratosis Hypoplasia of the calcaneus Platyspondyly Short palm Short foot Depressed nasal ridge Rhizomelia Thin ribs Hypoplastic iliac wing Decreased skull ossification Metaphyseal chondrodysplasia Severe platyspondyly Metaphyseal cupping of metacarpals Distal shortening of limbs Abnormality of the calcaneus Metaphyseal cupping of proximal phalanges Hepatosplenomegaly Small for gestational age Microretrognathia Cachexia Inability to walk Dyskinesia Small hand Tapered finger Sleep disturbance Brain atrophy Esotropia Intellectual disability, profound Choreoathetosis Severe muscular hypotonia Plagiocephaly Infantile muscular hypotonia Tented upper lip vermilion Global brain atrophy Poor speech Hip contracture Facial hypotonia Profound global developmental delay Generalized tonic seizures Appendicular hypotonia Profound static encephalopathy Malar flattening Abnormality of cardiovascular system morphology Coloboma Microtia Finger syndactyly Single transverse palmar crease Abnormal form of the vertebral bodies Thin skin Bulbous nose Severe global developmental delay Synophrys Patent foramen ovale Cirrhosis Thin vermilion border Abnormal bleeding Asthma Oligohydramnios Coarctation of aorta Pancytopenia Telangiectasia Hepatic fibrosis Decreased liver function Hydrops fetalis Situs inversus totalis Cutis laxa Poor suck Clitoral hypertrophy Osteopenia Dextrocardia Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Increased serum bile acid concentration Abnormality of glutamine metabolism Short neck Dystonia Cerebral atrophy Encephalopathy Constipation Premature closure of fontanelles


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