Growth delay, and Synophrys

Diseases related with Growth delay and Synophrys

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

Top matches:

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME Is also known as deafness, congenital, with split hands and feet

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Frontal bossing


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

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

Other less relevant matches:

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

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

Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-SHORT STATURE-BEHAVIORAL ABNORMALITIES-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 Synophrys

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hyperactivity Hearing impairment High palate Thick eyebrow Aggressive behavior Delayed speech and language development Hypertelorism Microcephaly Upslanted palpebral fissure Short neck Abnormal facial shape Generalized hypotonia Coarse facial features Wide nasal bridge

Rare Symptoms - Less than 30% cases

Moderate hearing impairment Neonatal hypotonia Brachydactyly Hirsutism Cleft palate Epicanthus Cerebellar vermis hypoplasia Sloping forehead Intellectual disability, moderate Mild microcephaly Obesity Brachycephaly Kyphosis Severe short stature Scoliosis Short philtrum Deeply set eye Behavioral abnormality Low anterior hairline Developmental regression Depressed nasal bridge Proximal renal tubular acidosis Renal tubular acidosis Metabolic acidosis Postaxial polydactyly Poor speech Acidosis Polydactyly Intrauterine growth retardation Truncal obesity Cryptorchidism Postnatal microcephaly Horizontal eyebrow Abnormality of the cerebellar vermis Highly arched eyebrow Unilateral cleft lip Progressive microcephaly Severe muscular hypotonia Everted lower lip vermilion Overweight Slender finger Dandy-Walker malformation Bruxism Primary amenorrhea Autism Lymphopenia Hydrocephalus Downslanted palpebral fissures Facial hirsutism Ptosis Aplasia of the vagina Anteverted ears Stereotypy Frontal balding Aplasia/Hypoplasia of the fallopian tube Strabismus Abnormality of the dentition Recurrent infections Macrotia Kyphoscoliosis Increased serum testosterone level Abnormal vagina morphology Absent speech Unilateral renal agenesis Protruding ear Renal agenesis Amenorrhea Prominent nose Cubitus valgus Acne Hypoplasia of the uterus Short nose High anterior hairline Midface retrusion Abnormality of the ovary Shield chest Aplasia of the uterus Febrile seizures Hypotelorism Broad eyebrow Round face Frontal bossing Intellectual disability, mild Bimanual synkinesia Cortical gyral simplification Impulsivity Ventriculomegaly Micrognathia Aplasia of the 2nd finger Hitchhiker thumb Split foot Abnormality of the nail Split hand Tapered finger Clinodactyly Prominent eyelashes Hypothyroidism Reduced sperm motility Abnormal spermatogenesis Congenital hypoplastic anemia Anemia of inadequate production Male infertility Progressive sensorineural hearing impairment Azoospermia Narrow palpebral fissure Bilateral sensorineural hearing impairment Infertility Prominent nasal bridge Anemia Low-set ears Long philtrum Delayed puberty Downturned corners of mouth Gingival overgrowth Cleft upper lip Smooth philtrum Abnormality of the cerebral white matter Cleft lip Intellectual disability, severe Hypoplasia of the corpus callosum Motor delay Prominent nasal septum Bifid nasal tip Widow's peak Anonychia Deep philtrum Long eyelashes Growth hormone deficiency Hypertrichosis Depressed nasal ridge Small nail Underdeveloped nasal alae Macroglossia Thick vermilion border Joint hypermobility Panhypopituitarism Myelomeningocele Hypopituitarism Adrenal insufficiency Spina bifida occulta Spina bifida Aspiration Duplication of thumb phalanx


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