Abnormal facial shape, and Tapered finger

Diseases related with Abnormal facial shape and Tapered finger

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


Top matches:

Medium match OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME


Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

Medium match GALLOWAY-MOWAT SYNDROME 4; GAMOS4


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Medium match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

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Other less relevant matches:

Medium match ACROMEGALOID FACIAL APPEARANCE SYNDROME


Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE


X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE Is also known as mental retardation and macrocephaly syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Medium 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

Medium match NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL


NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61


MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Medium match 6Q16 DELETION SYNDROME


Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Tapered finger

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Spasticity Epicanthus Synophrys Low-set ears High palate Bulbous nose Feeding difficulties Short stature Cerebral atrophy Obesity Wide nasal bridge Prominent nasal bridge Strabismus Hypoplasia of the corpus callosum Visual impairment

Rare Symptoms - Less than 30% cases


Dystonia Chorea Autism Absent speech Narrow forehead Delayed ability to walk Intellectual disability, mild Coarse facial features Aggressive behavior Long face Thick eyebrow Brachycephaly Highly arched eyebrow Round face Hyperreflexia Macrocephaly Intellectual disability, severe Thin upper lip vermilion Autistic behavior Muscular hypotonia Gait ataxia Clinodactyly of the 5th finger Everted lower lip vermilion Hyperactivity EEG abnormality Scoliosis Ataxia Nystagmus Macrotia Cerebral visual impairment Anteverted nares Cerebellar hypoplasia Micrognathia Short palm Cerebral cortical atrophy Abnormality of the pinna Abnormality of cardiovascular system morphology Full cheeks Downturned corners of mouth Myopia Generalized myoclonic seizures Short foot Hip dysplasia Impulsivity Short chin Congenital hypothyroidism Wide nose Poor speech Attention deficit hyperactivity disorder Microretrognathia Anxiety Polyphagia Umbilical hernia Gastroesophageal reflux Narrow nose High forehead Narrow mouth Decreased muscle mass Malignant hyperthermia Underdeveloped supraorbital ridges Joint hypermobility Muscular hypotonia of the trunk Posteriorly rotated ears Pes cavus Babinski sign Talipes equinovarus Joint laxity Low frustration tolerance Dolichocephaly Talipes Unsteady gait Involuntary movements Delayed myelination Inability to walk Brain atrophy Mandibular prognathia Prominent nose Hypsarrhythmia Postnatal microcephaly Long eyelashes Progressive microcephaly Pes planus Cerebellar atrophy Ventriculomegaly Hearing impairment Multifocal cerebral white matter abnormalities Large fleshy ears Horizontal eyebrow Abnormality of brain morphology Congenital stationary night blindness Bruxism Intellectual disability, moderate Constipation Ptosis Incoordination Diplopia Generalized-onset seizure Epileptic encephalopathy Progressive cerebellar ataxia Small hand Dysmetria Toe syndactyly Clinodactyly Encephalopathy Syndactyly Dysarthria Motor delay Cognitive impairment Diffuse mesangial sclerosis Dilated fourth ventricle Focal segmental glomerulosclerosis Glomerulosclerosis Nephrotic syndrome Polymicrogyria Stage 5 chronic kidney disease Arachnodactyly Proteinuria Visual field defect Obsessive-compulsive behavior Optic disc pallor Protruding ear Reduced visual acuity Upslanted palpebral fissure Optic atrophy Cerebellar vermis atrophy Blepharophimosis Hernia Hypotelorism Behavioral abnormality Muscle weakness Absent nares Female infertility Macroorchidism Ankle contracture Long fingers Limited elbow extension Delayed gross motor development Holoprosencephaly Abnormality of the fingernails Knee flexion contracture Pointed chin Intellectual disability, profound Hypertonia Joint hyperflexibility Large hands Macroglossia Sloping forehead Thick lower lip vermilion Thickened skin Gingival overgrowth Abnormality of the metacarpal bones Long nose Downslanted palpebral fissures Palpebral edema Craniofacial hyperostosis Abnormality of the tongue Thick nasal alae Abnormal lip morphology Flexion contracture Misalignment of teeth



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Arthrogryposis multiplex congenita, related diseases and genetic alterations Neuroblastoma and Anal atresia, related diseases and genetic alterations Brachydactyly and Psychosis, related diseases and genetic alterations Hydrocephalus and Long philtrum, related diseases and genetic alterations Skeletal muscle atrophy and Meningitis, related diseases and genetic alterations Leukemia and Esotropia, related diseases and genetic alterations

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