Abnormal facial shape, and Abnormality of the genital system

Diseases related with Abnormal facial shape and Abnormality of the genital system

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


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6


Related symptoms:

  • Abnormal facial shape
  • Hyperhidrosis
  • Postaxial hand polydactyly
  • Broad phalanges of the 5th finger


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Low 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

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Other less relevant matches:

Low match MENTAL RETARDATION, X-LINKED 103; MRX103


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cryptorchidism
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 103; MRX103

Low match MENTAL RETARDATION, X-LINKED 93; MRX93


MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

Low match MORM SYNDROME


MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.

MORM SYNDROME Is also known as morm syndrome|mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cataract
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MORM SYNDROME

Low 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

Low match X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE


X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE Is also known as shashi x-linked mental retardation syndrome|syndromic x-linked intellectual disability type 11|smrxs|mental retardation, x-linked, shashi type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE

Low match SYNDACTYLY TYPE 8


Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.

SYNDACTYLY TYPE 8 Is also known as fusion of metacarpals 4 and 5

Related symptoms:

  • Syndactyly
  • Hernia
  • Inguinal hernia
  • Upslanted palpebral fissure
  • Hyperactivity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDACTYLY TYPE 8

Low match X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME


X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.

X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME Is also known as mental retardation, x-linked 35|mrx35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of the genital system

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
Tremor Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Cryptorchidism Truncal obesity Intellectual disability, moderate Global developmental delay Microcephaly Triangular face Macrotia Thin upper lip vermilion Coarse facial features Micropenis Ventriculomegaly Generalized hypotonia Hypotelorism Deeply set eye Hypoplasia of the uterus Bulbous nose Blepharophimosis Behavioral abnormality Sensorineural hearing impairment Hearing impairment Increased circulating gonadotropin level Cerebellar hypoplasia Ectrodactyly Gait disturbance Hypergonadotropic hypogonadism Gliosis Primary amenorrhea Amenorrhea Microphallus Underdeveloped nasal alae Cervical cord compression Polyneuropathy Everted lower lip vermilion Bilateral sensorineural hearing impairment Specific learning disability Short stature Split hand Toe syndactyly Attention deficit hyperactivity disorder Hydrocele testis Fused fourth and fifth metacarpals Hyperactivity Upslanted palpebral fissure Inguinal hernia Sandal gap Hernia Syndactyly Periorbital fullness Macroorchidism Palpebral edema Prominent supraorbital ridges Narrow palpebral fissure Thick lower lip vermilion Delayed puberty Reduced visual acuity Hypogonadism Large forehead Polymicrogyria Wide mouth Absent speech Anteverted nares Bone marrow hypercellularity Abnormal platelet morphology Spontaneous, recurrent epistaxis Myelofibrosis Petechiae Muscular hypotonia Menorrhagia Epistaxis Osteoporosis Thrombocytopenia Broad phalanges of the 5th finger Postaxial hand polydactyly Hyperhidrosis Myoclonus Short palm Cognitive impairment Delayed skeletal maturation Pointed chin Ptosis Childhood-onset truncal obesity Retinal dystrophy Dystonia Polydactyly Visual impairment Cataract Cupped ear Tall stature Macrocephaly Long face Protruding ear Pes planus Prominent forehead Pectus excavatum Kyphosis Intellectual disability, mild Frontal bossing Increased body mass index



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