Intrauterine growth retardation, and Prominent nose

Diseases related with Intrauterine growth retardation and Prominent nose

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

Top matches:

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE

Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

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

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

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

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

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

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Prominent nose

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Seizures Failure to thrive Cryptorchidism Cerebral atrophy Abnormal facial shape Scoliosis Sloping forehead Severe global developmental delay Severe short stature Postnatal growth retardation Clinodactyly Low-set ears

Rare Symptoms - Less than 30% cases

Spasticity Brachycephaly Intellectual disability, mild Autism Thin upper lip vermilion Abnormality of the nervous system Autistic behavior Tremor Delayed speech and language development Smooth philtrum Retrognathia Absent speech Nystagmus Abnormality of cardiovascular system morphology Deeply set eye High palate Joint laxity Brain atrophy Wide nasal bridge Downslanted palpebral fissures Prominent nasal bridge Short philtrum Posteriorly rotated ears Overlapping toe Ptosis Small hand Hypertelorism Cerebellar hypoplasia Delayed skeletal maturation Microtia Strabismus Cerebellar atrophy Feeding difficulties Cortical gyral simplification Generalized hypotonia Dementia Infantile muscular hypotonia Triangular face Freckling Esotropia Intellectual disability, profound Open mouth Choreoathetosis Severe muscular hypotonia Plagiocephaly Tented upper lip vermilion Tapered finger Cachexia Failure to thrive in infancy Global brain atrophy Hip contracture Facial hypotonia Profound global developmental delay Neoplasm of the skin Generalized tonic seizures Bone marrow hypocellularity Appendicular hypotonia Sleep disturbance Dyskinesia Tubular atrophy Prominent forehead Epicanthus Frontal bossing Anteverted nares Short neck Hypoplasia of the corpus callosum Dystonia Seborrheic keratosis Encephalopathy Constipation Cholangiocarcinoma High forehead Cleft palate Osteopenia Muscular hypotonia of the trunk Defective DNA repair after ultraviolet radiation damage Broad forehead Poor speech Bulbous nose Inability to walk Photophobia Morphological abnormality of the central nervous system Verrucae Profound static encephalopathy Talipes equinovarus Cafe-au-lait spot Ataxia Aqueductal stenosis Hand oligodactyly Chorea Phocomelia Proteinuria Arrhinencephaly Aplasia/Hypoplasia of the ulna Deep-set nails Absent forearm Hearing impairment Neoplasm Delayed myelination Sensorineural hearing impairment Anemia Flexion contracture Progressive cerebellar ataxia Hypertension Erythema Muscle cramps Astigmatism Papule Attention deficit hyperactivity disorder 11 pairs of ribs Abnormality of the uterus Renal insufficiency Renal hypoplasia/aplasia Malar flattening Narrow mouth Hyperactivity Coloboma Finger syndactyly Single transverse palmar crease Abnormal form of the vertebral bodies Thin skin Wide anterior fontanel Microretrognathia Abnormality of pelvic girdle bone morphology Short tibia Radioulnar synostosis Triphalangeal thumb Supernumerary nipple Cutaneous photosensitivity Short humerus Microdontia Oligodactyly Aplasia/Hypoplasia of the radius Fibular hypoplasia Sprengel anomaly Decreased body weight Myopia Posterior helix pit Pneumonia Falls Wide nose Everted lower lip vermilion Broad nasal tip Intention tremor Frequent falls Cupped ear Mildly elevated creatine phosphokinase Impaired social interactions Cardiomyopathy Agenesis of corpus callosum Wide mouth Craniosynostosis Short foot Round face Mild short stature Partial agenesis of the corpus callosum Restrictive cardiomyopathy Metaphyseal sclerosis Ventriculomegaly Clinodactyly of the 5th finger Camptodactyly Feeding difficulties in infancy Unsteady gait Upslanted palpebral fissure Camptodactyly of finger Lumbar scoliosis Intellectual disability, severe Obesity Hypothyroidism Hip dysplasia Amenorrhea Hypotelorism Primary amenorrhea Hypoplasia of the uterus Central hypothyroidism Madelung deformity Abnormality of the carpal bones Cataract Elevated serum creatine phosphokinase Visual impairment Optic atrophy Microphthalmia Proptosis Retinopathy Microcornea Optic disc pallor Optic nerve hypoplasia Hypoplasia of the brainstem Macular atrophy Pain Joint stiffness Small for gestational age Mild myopia Intestinal malrotation Neonatal insulin-dependent diabetes mellitus Labial hypertrophy Abnormality of the placenta Cognitive impairment Syndactyly Carious teeth Genu valgum Hirsutism Highly arched eyebrow Premature birth Dental malocclusion Abdominal wall defect Convex nasal ridge Broad thumb Long eyelashes Narrow palate Delayed gross motor development Broad hallux Long nose Low hanging columella Preeclampsia Overbite Pes valgus Small anterior fontanelle Abnormality of earlobe Abnormality of the foot Patent ductus arteriosus Oral cleft Interphalangeal joint contracture of finger Finger clinodactyly Short chin Rocker bottom foot Abnormal joint morphology Abnormal lung lobation Severe intrauterine growth retardation Severe postnatal growth retardation Hepatomegaly Ventricular septal defect Umbilical hernia Hypoplastic fingernail Macroglossia Generalized myoclonic seizures Dehydration Oligohydramnios Cardiomegaly Abnormality of the face Gingival overgrowth Precocious puberty Neonatal respiratory distress Prominent occiput Shallow orbits Numerous pigmented freckles


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