Abnormal facial shape, and Deeply set eye

Diseases related with Abnormal facial shape and Deeply set eye

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45


Related symptoms:

  • Intellectual disability
  • Seizures
  • Wide nasal bridge
  • Coarse facial features
  • Deeply set eye


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45

Medium match HEREDITARY THROMBOCYTOPENIA WITH EARLY-ONSET MYELOFIBROSIS


Thrombocytopenia-6 is an autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. Patients may also have bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis (summary by Turro et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.

HEREDITARY THROMBOCYTOPENIA WITH EARLY-ONSET MYELOFIBROSIS Is also known as thrombocytopenia, autosomal dominant, 6

Related symptoms:

  • Abnormal facial shape
  • Thrombocytopenia
  • Osteoporosis
  • Deeply set eye
  • Hypotelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY THROMBOCYTOPENIA WITH EARLY-ONSET MYELOFIBROSIS

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7


MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7 Is also known as mrt22|mental retardation, autosomal recessive 22

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7

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Other less relevant matches:

Medium match OVARIAN DYSGENESIS 7; ODG7


Ovarian dysgenesis-7 is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles (Chen et al., 2018).

Related symptoms:

  • Abnormal facial shape
  • Ptosis
  • Delayed skeletal maturation
  • Hypogonadism
  • Thin upper lip vermilion


SOURCES: OMIM MENDELIAN

More info about OVARIAN DYSGENESIS 7; ODG7

Medium 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

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38


MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

Medium match ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME


Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME Is also known as distal arthrogryposis with ophthalmoplegia|distal arthrogryposis type 5|oculomelic amyoplasia|distal arthrogryposis type iib

Related symptoms:

  • Ptosis
  • Visual impairment
  • Optic atrophy
  • Pectus excavatum
  • Inguinal hernia


SOURCES: ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME

Medium match GALLOWAY-MOWAT SYNDROME 5; GAMOS5


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 and ear abnormalities. Other features, such as arachnodactyly and visual or hearing 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:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

Medium match MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE


Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Deeply set eye

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Long face Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hypotelorism Intellectual disability, severe

Rare Symptoms - Less than 30% cases


Short philtrum Macrotia Low-set ears Downslanted palpebral fissures Ataxia Depressed nasal bridge Failure to thrive Arachnodactyly Poor speech Ptosis Epicanthus Cerebral atrophy Triangular face Hypertelorism Thick vermilion border Prominent supraorbital ridges Wide nasal bridge Short stature Bilateral talipes equinovarus Focal-onset seizure Brain atrophy Generalized myoclonic seizures Delayed myelination Stage 5 chronic kidney disease Proteinuria Abnormal electroretinogram Delayed gross motor development Deviation of finger Mandibular prognathia Nephrotic syndrome Ventriculomegaly Spasticity Hearing impairment Absent palmar crease Congenital finger flexion contractures Dimple chin Peripheral demyelination Pachygyria Neurological speech impairment Hyperactivity Feeding difficulties Cognitive impairment Strabismus Widely spaced teeth Tremor Decreased body weight Broad-based gait Frontal bossing Wide nose Gastroesophageal reflux Macrocephaly Anxiety Prominent forehead Severe short stature Malar flattening Hyperlordosis Scoliosis Focal segmental glomerulosclerosis Glomerulosclerosis Microtia Broad forehead Wide mouth Neonatal hypotonia Ophthalmoplegia Bone marrow hypercellularity Hypogonadism Delayed skeletal maturation Narrow philtrum Pointed chin Autistic behavior Camptodactyly Autism Syndactyly Delayed speech and language development Abnormal platelet morphology Delayed puberty Spontaneous, recurrent epistaxis Myelofibrosis Large forehead Petechiae Menorrhagia Epistaxis Osteoporosis Thrombocytopenia Thick eyebrow Coarse facial features Thin upper lip vermilion Polyneuropathy Joint stiffness Absent speech Inguinal hernia Pectus excavatum Optic atrophy Visual impairment Tented upper lip vermilion Everted lower lip vermilion Downturned corners of mouth Generalized tonic-clonic seizures Aggressive behavior Large hands Underdeveloped nasal alae Thick lower lip vermilion Narrow mouth Gait ataxia Brachycephaly High palate Increased circulating gonadotropin level Hypoplasia of the uterus Hypergonadotropic hypogonadism Primary amenorrhea Amenorrhea Postnatal macrocephaly



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Pruritus, related diseases and genetic alterations Dysarthria and Triangular face, related diseases and genetic alterations Edema and Macrotia, related diseases and genetic alterations Skeletal muscle atrophy and Psychosis, related diseases and genetic alterations Cryptorchidism and Dehydration, related diseases and genetic alterations

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