Growth delay, and Protruding ear

Diseases related with Growth delay and Protruding ear

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Short stature
  • High palate
  • Clinodactyly
  • Macrotia


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 45; MRX45

The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about THREE M SYNDROME 3; 3M3

THREE M SYNDROME 2; 3M2 Is also known as 3m syndrome 2

Related symptoms:

  • Short stature
  • Frontal bossing
  • Anteverted nares
  • Short neck
  • Long philtrum


SOURCES: OMIM MESH MENDELIAN

More info about THREE M SYNDROME 2; 3M2

Other less relevant matches:

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME

Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

ACROFACIAL DYSOSTOSIS, WEYERS TYPE Is also known as weyers acrodental dysostosis|acrodental dysostosis of weyers|weyers acrofacial dysostosis|curry-hall syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Brachydactyly
  • Abnormality of the dentition
  • Clinodactyly of the 5th finger


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, WEYERS TYPE

Autosomal dominant primary microcephaly is a rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT PRIMARY MICROCEPHALY

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

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

Top 5 symptoms//phenotypes associated to Growth delay and Protruding ear

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Triangular face Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Midface retrusion Short neck Anteverted nares Global developmental delay High palate

Rare Symptoms - Less than 30% cases

Hypotelorism Upslanted palpebral fissure Clinodactyly Nail dystrophy Slender long bone Long face Pointed chin Seizures Thick eyebrow Frontal bossing Hyperlordosis Long philtrum Brachydactyly Thick vermilion border Hirsutism Dolichocephaly Strabismus Ataxia Thoracic platyspondyly Hypertonia Low-set ears Intellectual disability, severe Absent speech Cerebellar hypoplasia Agenesis of corpus callosum Posteriorly rotated ears Low-set, posteriorly rotated ears Dentinogenesis imperfecta Abnormality of cardiovascular system morphology Generalized osteoporosis Pectus carinatum Prominent forehead Motor delay Depressed nasal bridge Sensorineural hearing impairment Osteoporosis Micrognathia Narrow mouth Osteopenia Platyspondyly Mixed hearing impairment Facial asymmetry Sparse hair Delayed eruption of teeth Recurrent fractures Increased bone mineral density Progressive hearing impairment Prominent supraorbital ridges Increased susceptibility to fractures Wormian bones Long eyelashes Poor speech High anterior hairline Amenorrhea Primary amenorrhea Cubitus valgus Acne Unilateral renal agenesis Hypoplasia of the uterus Abnormality of the ovary Synophrys Shield chest Aplasia of the uterus Abnormal vagina morphology Frontal balding Increased serum testosterone level Facial hirsutism Aplasia of the vagina Renal agenesis Short philtrum Everted lower lip vermilion Low anterior hairline Highly arched eyebrow Abnormal cerebellum morphology Narrow forehead Cerebellar vermis hypoplasia Thick lower lip vermilion Hearing impairment Aplasia/Hypoplasia of the corpus callosum Obesity Partial agenesis of the corpus callosum Palpebral edema Limb hypertonia Congenital microcephaly Nonprogressive cerebellar ataxia Upper eyelid edema Cleft palate Scoliosis Prominent antihelix Alternating esotropia Long nose High forehead EEG abnormality Aggressive behavior Intellectual disability, profound Open mouth Short chin Spasticity Gait disturbance Epicanthus Atrial septal defect Macroglossia Narrow face Brittle hair Cupped ear Spastic diplegia Myopathy Skeletal muscle atrophy Abnormality of the dentition Small for gestational age Macrotia Pes planus Abnormality of the pinna Prominent nasal bridge Large hands Abnormality of the skeletal system Hip dysplasia Feeding difficulties Short thorax Increased vertebral height Scapular winging Prominent nasal tip Prominent calcaneus Generalized hypotonia Abnormal facial shape Dry hair Clinodactyly of the 5th finger Small forehead Abnormality of the nervous system Advanced eruption of teeth Toenail dysplasia Single median maxillary incisor Abnormal oral frenulum morphology Nystagmus Cognitive impairment Esotropia Overlapping fingers Sloping forehead Broad thumb Horizontal nystagmus Oligodontia Reduced number of teeth Broad hallux Overbite Conical tooth Thoracic dysplasia Severe short stature Limb undergrowth Polydactyly Anal atresia Short palm Postaxial polydactyly Small hand Hypodontia Nail dysplasia Postaxial hand polydactyly Abnormal toenail morphology Small nail Abnormality of the fingernails Hypoplastic toenails Mild short stature Facial cleft Postaxial foot polydactyly Abnormality of the antihelix Aplasia/Hypoplasia of the fallopian tube


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