Growth delay, and Thick eyebrow

Diseases related with Growth delay and Thick eyebrow

In the following list you will find some of the most common rare diseases related to Growth delay and Thick eyebrow that can help you solving undiagnosed cases.

Top matches:

Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Other less relevant matches:

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.

BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME Is also known as vbs|platyspondyly with amelogenesis imperfecta|sthag6, formerly|tooth agenesis, selective, 6, formerly|platyspondyly-amelogenesis imperfecta syndrome|verloes-bourguignon syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Myopia
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

PROGEROID SYNDROME, PETTY TYPE Is also known as petty syndrome|petty-laxova-wiedemann syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Strabismus
  • Epicanthus
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PROGEROID SYNDROME, PETTY TYPE

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

Top 5 symptoms//phenotypes associated to Growth delay and Thick eyebrow

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Synophrys Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Thick eyebrow. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Hypertelorism Strabismus Highly arched eyebrow Brachycephaly Epicanthus Short neck Everted lower lip vermilion High palate Low-set ears Long eyelashes Scoliosis Hirsutism Mandibular prognathia Coarse facial features Seizures Cerebellar vermis hypoplasia Abnormal facial shape

Rare Symptoms - Less than 30% cases

Autism Brittle hair Single transverse palmar crease Reduced number of teeth Hydrocephalus Aggressive behavior Delayed speech and language development Anteverted nares Cutis laxa Absent speech Cleft palate Umbilical hernia Brachydactyly Low-set, posteriorly rotated ears Hearing impairment Deep philtrum Protruding ear Kyphosis Sparse hair Hypertrichosis Upslanted palpebral fissure Myopia Delayed skeletal maturation Narrow forehead Fine hair Sandal gap Nonprogressive visual loss Agenesis of permanent teeth Hyposegmentation of neutrophil nuclei Prominent glabella Dyschromatopsia Blue cone monochromacy Achromatopsia Progressive visual loss Herniation of intervertebral nuclei Small hand Syndactyly Intervertebral space narrowing Narrow vertebral interpedicular distance Muscular hypotonia Optic atrophy Abdominal aortic aneurysm Thoracic aortic aneurysm Blindness Long philtrum Reduced visual acuity Amelogenesis imperfecta Proptosis Postnatal growth retardation Selective tooth agenesis Hypermetropia Facial asymmetry Large forehead Micromelia Long face Thin vermilion border Failure to thrive Prematurely aged appearance Intrauterine growth retardation Ptosis Tall stature Narrow palpebral fissure Long palpebral fissure Short columella Maternal diabetes Everted upper lip vermilion Premature rupture of membranes Downslanted palpebral fissures Premature birth Behavioral abnormality Short nose Midface retrusion Hyperactivity Deeply set eye Developmental regression Dandy-Walker malformation Mild microcephaly Overgrowth Round face Broad forehead Lipoatrophy Short distal phalanx of finger Wide anterior fontanel Abnormality of the hair Abnormality of the nail Generalized hirsutism Abnormal dermatoglyphics Redundant skin Reduced subcutaneous adipose tissue Decreased skull ossification Abnormal cardiac septum morphology Shagreen patch Long eyelashes in irregular rows Macrocephaly Ventricular septal defect Atrial septal defect Hernia Polyhydramnios Blepharophimosis Aortic aneurysm Frontal balding Oligodontia Bifid uvula Anemia Motor delay Depressed nasal bridge Intellectual disability, mild Conductive hearing impairment Abnormality of the pinna Autistic behavior Flat occiput Broad eyebrow Increased number of teeth Bilateral conductive hearing impairment Ataxia Intellectual disability, severe Hypertonia Cerebellar hypoplasia Agenesis of corpus callosum Prominent nasal septum Bifid nasal tip Poor speech Sensorineural hearing impairment Micrognathia Ventriculomegaly Intellectual disability, moderate Sloping forehead Impulsivity Cortical gyral simplification Bimanual synkinesia Wide nasal bridge Widow's peak Joint hypermobility Thick vermilion border Macroglossia Underdeveloped nasal alae Small nail Depressed nasal ridge Gingival overgrowth Anonychia Posteriorly rotated ears Abnormal cerebellum morphology Widely spaced teeth Osteopenia Abnormal vagina morphology Increased serum testosterone level Facial hirsutism Aplasia of the vagina Aplasia/Hypoplasia of the fallopian tube Abnormality of the dentition Dilatation Skeletal dysplasia Shield chest Platyspondyly Arachnodactyly Short palm Delayed eruption of teeth Hypoplasia of the maxilla Microdontia Mitral valve prolapse Hypoplasia of dental enamel Aplasia of the uterus Abnormality of the ovary Thick lower lip vermilion Upper eyelid edema Low anterior hairline Aplasia/Hypoplasia of the corpus callosum Partial agenesis of the corpus callosum Palpebral edema Limb hypertonia Congenital microcephaly Nonprogressive cerebellar ataxia Obesity High anterior hairline Short philtrum Renal agenesis Amenorrhea Primary amenorrhea Cubitus valgus Acne Unilateral renal agenesis Hypoplasia of the uterus Duplication of thumb phalanx


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