Abnormal facial shape, and Hypogonadism

Diseases related with Abnormal facial shape and Hypogonadism

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


Top matches:

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 XQ27.3Q28 DUPLICATION SYNDROME


Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Low match KERATODERMA HEREDITARIUM MUTILANS


Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.

KERATODERMA HEREDITARIUM MUTILANS Is also known as khm|mutilating keratoderma|deafness, congenital, with keratopachydermia and constrictions of fingers and toes|vohwinkel syndrome|mutilating keratoderma of vohwinkel|mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|ppk mutilans and de

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KERATODERMA HEREDITARIUM MUTILANS

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Other less relevant matches:

Low match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Low match CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1


CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Low match AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY


Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph|premature chromosome condensation with microcephaly and mental retardation|pcc syndrome|true microcephaly|premature chromosome condensation syndrome|microcephalia vera|microcephaly vera

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

Low match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Low match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Low match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Low match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY


Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Hypogonadism

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hypergonadotropic hypogonadism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Cleft palate Microcephaly Intellectual disability Sensorineural hearing impairment Delayed skeletal maturation Intellectual disability, mild Micrognathia Delayed puberty Hypogonadotrophic hypogonadism Deeply set eye Ichthyosis Prominent forehead Failure to thrive Seizures Cryptorchidism Intrauterine growth retardation Decreased testicular size Cleft lip

Rare Symptoms - Less than 30% cases


Thin upper lip vermilion Cataract Dilated cardiomyopathy Craniosynostosis Hypoglycemia Depressed nasal bridge Postnatal growth retardation Facial asymmetry Short nose Short phalanx of finger Micropenis Truncal obesity Low-set ears Unilateral renal agenesis Increased circulating gonadotropin level Hypotelorism Cardiomyopathy Muscular hypotonia Bilateral sensorineural hearing impairment Small for gestational age Bilateral cryptorchidism Anosmia Small hand Azoospermia Growth hormone deficiency Gynecomastia Scoliosis Abnormality of the genital system Hypocalcemia Hypospadias Frontal bossing Micromelia Hydronephrosis Muscular dystrophy Macrocephaly Respiratory tract infection Chronic hepatitis Abnormal protein glycosylation Malignant hyperthermia Abnormality of the liver Hepatic steatosis Muscle cramps Bifid uvula Chest pain Hepatitis Cardiac arrest Exercise intolerance Abnormality of the coagulation cascade Rhabdomyolysis Pierre-Robin sequence Type II transferrin isoform profile Hyperinsulinemic hypoglycemia Small face Short long bone Type I transferrin isoform profile Tachycardia Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Nephrocalcinosis Retrognathia Hypercalciuria Insulin resistance Clinodactyly of the 5th finger Severe short stature Osteoporosis Hyperactivity Osteopenia Attention deficit hyperactivity disorder Single transverse palmar crease Delayed eruption of teeth Low posterior hairline Decreased body weight Cafe-au-lait spot Abnormality of metabolism/homeostasis Low anterior hairline Radial deviation of finger Congenital sensorineural hearing impairment Severe intrauterine growth retardation Abnormality of the mouth Severe postnatal growth retardation Short attention span Concave nasal ridge Neonatal hyperbilirubinemia Prelingual sensorineural hearing impairment Small placenta Clinodactyly Behavioral abnormality Hypercalcemia Long philtrum Epiphyseal dysplasia Adrenal insufficiency Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Hypertelorism Hypertension Congestive heart failure Stroke Myopia Wide nose Cerebral hemorrhage Premature graying of hair Stroke-like episode Abnormal left ventricle morphology Congenital ptosis Broad finger Abnormality of the nares Abnormal hand morphology Moyamoya phenomenon Motor delay Elevated hepatic transaminase Intellectual disability, moderate Dyspnea Plantar hyperkeratosis Abnormality of the nail Osteolysis Mutism Palmoplantar hyperkeratosis Self-injurious behavior Abnormal toenail morphology Xanthomatosis Amniotic constriction ring Leukonychia Abnormality of the spinal cord Palmoplantar keratoderma Autoamputation of digits Ainhum Epidermal thickening Honeycomb palmoplantar keratoderma Ataxia High palate Pes cavus Abnormality of the eye Abnormality of eye movement Thickened skin Hypotrichosis Renal agenesis Bulbous nose Polyneuropathy Underdeveloped nasal alae Amenorrhea Primary amenorrhea Hypoplasia of the uterus Generalized hypotonia Obesity Neonatal hypotonia Thin vermilion border Short foot Papule Specific learning disability Premature ovarian insufficiency High pitched voice Sparse body hair Decreased serum testosterone level Abdominal obesity Primary testicular failure Cognitive impairment Alopecia Hyperkeratosis Oral cleft Holoprosencephaly Hypothyroidism Pachygyria Ventriculomegaly Intellectual disability, severe Agenesis of corpus callosum Upslanted palpebral fissure Tetraplegia Vesicoureteral reflux Sloping forehead Spastic tetraplegia Heterotopia Chromosome breakage Delayed speech and language development Mild microcephaly Abnormal cortical bone morphology Bird-like facies Hypoplasia of the frontal lobes Small cerebral cortex Increased rate of premature chromosome condensation Muscle weakness Fever Fatigue Elevated serum creatine phosphokinase Hyperreflexia Maternal autoimmune disease Anodontia Decreased circulating luteinizing hormone level Sparse pubic hair Hyposmia Abnormal renal morphology Microphallus Testicular atrophy Bimanual synkinesia Bilateral renal agenesis Eunuchoid habitus Alobar holoprosencephaly Olfactory lobe agenesis Short nasal septum Hypothalamic gonadotropin-releasing hormone deficiency Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Total anosmia Autoimmunity Short distal phalanx of finger Systemic lupus erythematosus Abnormality of the vertebral column Epiphyseal stippling Vitamin K deficiency Congenital bilateral ptosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Smooth philtrum, related diseases and genetic alterations Neuroblastoma and Glaucoma, related diseases and genetic alterations Lymphoma and Ventriculomegaly, related diseases and genetic alterations Myopathy and Hyperreflexia, related diseases and genetic alterations Epicanthus and Short metacarpal, related diseases and genetic alterations

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