Abnormal facial shape, and Brachycephaly

Diseases related with Abnormal facial shape and Brachycephaly

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Brachycephaly that can help you solving undiagnosed cases.


Top matches:

Low match X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY


Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx|mrx18|mental retardation, x-linked 78|mrx78|mental retardation, x-linked 18

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY


Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

Low match OSTEOGENESIS IMPERFECTA, TYPE XI; OI11


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 XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XI; OI11 Is also known as oi, type xi

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Abnormality of the dentition
  • Brachycephaly


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XI; OI11

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Other less relevant matches:

Low match PARIETAL FORAMINA 2; PFM2


Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Depressed nasal bridge
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about PARIETAL FORAMINA 2; PFM2

Low match INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME


INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Low match VERVERI-BRADY SYNDROME; VERBRAS


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

Low match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY 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

Low match INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME


Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Low match KLEEFSTRA SYNDROME 2; KLEFS2


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 Abnormal facial shape and Brachycephaly

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Brachycephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Synophrys Delayed speech and language development Downslanted palpebral fissures Long face Thin upper lip vermilion Growth delay Short stature Autism Ptosis High palate Upslanted palpebral fissure Intellectual disability, severe Absent speech

Rare Symptoms - Less than 30% cases


Developmental regression Broad nasal tip Narrow palate Narrow forehead Low-set ears Motor delay Intellectual disability, mild Thick eyebrow Epicanthus Smooth philtrum Muscular hypotonia Everted lower lip vermilion Horizontal eyebrow Wide nasal bridge Short neck Hypoplasia of the corpus callosum Mild microcephaly Round face Downturned corners of mouth Hyperactivity Obesity Behavioral abnormality Neonatal hypotonia Strabismus Scoliosis Hypotelorism Short philtrum Deeply set eye Macrotia Postnatal microcephaly Autistic behavior Hypermetropia Aggressive behavior Frequent falls Reduced visual acuity Falls Thin vermilion border Wide nose Micromelia Facial asymmetry Prominent nose Postnatal growth retardation Proptosis Delayed skeletal maturation Cupped ear Syndactyly Long philtrum Blindness Optic atrophy Small hand Myopia Brachydactyly Intention tremor Impaired social interactions Mildly elevated creatine phosphokinase Wormian bones Progressive visual loss Single transverse palmar crease Congenital hypothyroidism Cerebellar vermis hypoplasia Dandy-Walker malformation Highly arched eyebrow Coarse facial features Midface retrusion Short nose Kyphosis Hydrocephalus Multifocal cerebral white matter abnormalities Large fleshy ears Abnormality of brain morphology Congenital stationary night blindness Malignant hyperthermia Underdeveloped supraorbital ridges Generalized myoclonic seizures Wide mouth Tapered finger Abnormality of the pinna Cerebral cortical atrophy Cerebellar hypoplasia Clinodactyly of the 5th finger Nonprogressive visual loss Hyposegmentation of neutrophil nuclei Blue cone monochromacy Prominent glabella Achromatopsia Dyschromatopsia Cutis laxa Sandal gap Fine hair Unsteady gait Pain Abnormality of the nervous system Broad thumb Abnormality of the dentition Kyphoscoliosis Osteopenia Symmetrical, oval parietal bone defects Wide nasal ridge Parietal foramina Aplasia cutis congenita of scalp Diastema Broad columella Depressed nasal tip Bilateral cryptorchidism Sparse eyebrow Joint laxity Encephalocele Large hands Triangular face Abnormality of the skin Alopecia Depressed nasal bridge Cryptorchidism Blue sclerae Vertebral wedging Protrusio acetabuli Biconcave vertebral bodies Dentinogenesis imperfecta Vertebral compression fractures Increased susceptibility to fractures Elevated alkaline phosphatase Flexion contracture EEG abnormality Elevated serum creatine phosphokinase Poor speech Tremor Intrauterine growth retardation Coxa vara Abnormality of the cerebellar vermis Unilateral cleft lip Bruxism Overweight Slender finger Truncal obesity Severe muscular hypotonia Low anterior hairline Progressive microcephaly Febrile seizures Cleft upper lip Attention deficit hyperactivity disorder Plagiocephaly Abnormality of the cerebral white matter Abnormality of the head Cleft lip Ataxia Gait ataxia Narrow mouth Thick lower lip vermilion Pointed chin Cafe-au-lait spot Dental crowding Prominent supraorbital ridges Dolichocephaly Duplication of thumb phalanx



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Pallor, related diseases and genetic alterations Skeletal muscle atrophy and Kyphoscoliosis, related diseases and genetic alterations Pain and Syndactyly, related diseases and genetic alterations Spasticity and Polyhydramnios, related diseases and genetic alterations Abnormal facial shape and Highly arched eyebrow, related diseases and genetic alterations

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